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<meta name="keywords" content="C4073175, decreased diffusing capacity, decreased dlco, finding, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=892993
|
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ConceptID=C4073175
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Decreased DLCO</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892993</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4073175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Decreased diffusing capacity</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0045051">HP:0045051</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Decreased DLCO</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/635153" ref="tree=MeSH" title="MedGen record for Abnormality on pulmonary function testing">Abnormality on pulmonary function testing</a></span><ul><li><span class="TLline"><a href="/medgen/893139" ref="tree=MeSH" title="MedGen record for Abnormal DLCO">Abnormal DLCO</a></span><ul><li><span class="matched_ds">Decreased DLCO</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_78651"><div><strong>Niemann-Pick disease, type B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78651</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). Enzyme replacement therapy (ERT) is currently FDA approved for the non-central nervous system manifestations of ASMD, regardless of type. As more affected individuals are treated with ERT for longer periods of time, the natural history of ASMD is likely to change. The most common presenting symptom in untreated NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Growth failure typically becomes evident by the second year of life. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. This feature may not be amenable to ERT. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children, although it is unclear if ERT will have an impact on this. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most untreated children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized in untreated individuals by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some central nervous system manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B, even when untreated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78651">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90956"><div><strong>Familial pulmonary capillary hemangiomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90956</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0340848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see 178600). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by Eyries et al., 2014). For a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 (265450).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90956">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_698415"><div><strong>Autosomal recessive inherited pseudoxanthoma elasticum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>698415</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1275116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/698415">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410078"><div><strong>Surfactant metabolism dysfunction, pulmonary, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary surfactant metabolism dysfunction-2 (SMDP2) is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410079"><div><strong>Autoimmune pulmonary alveolar proteinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410079</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970472</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. The estimated incidence and prevalence are 0.36 and 3.70 cases per million, respectively (Trapnell et al., 2003; Seymour and Presneill, 2002). Secondary pulmonary alveolar proteinosis develops in association with conditions involving functional impairment or reduced numbers of alveolar macrophages. Such conditions include some hematologic cancers, pharmacologic immunosuppression, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with pulmonary surfactant metabolism dysfunction caused by mutations in genes involved in surfactant metabolism (see, e.g., SMDP1, 265120) (Trapnell et al., 2003). See 300770 for information on congenital PAP due to CSF2RA (306250) deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410079">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393858"><div><strong>Surfactant metabolism dysfunction, pulmonary, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393858</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2677877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (138960) expression. Acquired PAP (610910), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (138960) (Martinez-Moczygemba et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393858">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462795"><div><strong>Dyskeratosis congenita, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462795</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462795">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766531"><div><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766531</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_901644"><div><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901644</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/901644">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903928"><div><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903928</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903928">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800821"><div><strong>Autoimmune interstitial lung disease-arthritis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800821</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5243948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic autoinflammation and autoimmunity with immune dysregulation (AIAISD) is an autosomal dominant systemic autoinflammatory disorder with autoimmunity and immune dysregulation. Affected individuals present in the first decade of life with variable features that may include interstitial lung disease, alveolar hemorrhage, inflammatory arthritis, neuromyelitis optica, livedo reticularis, dysautonomia, recurrent infections, and renal disease. Laboratory studies usually show high-titer autoantibodies and features of inflammation, including a type I interferon (e.g., 147660) signature and elevation of inflammatory cytokines. The disorder shows significant incomplete penetrance; most carrier parents are unaffected (summary by Watkin et al., 2015; Delafontaine et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1800821">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1711127"><div><strong>Fanconi renotubular syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1711127</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5394473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016). For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1711127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794136"><div><strong>Interstitial lung disease 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794136</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (review by Gross and Hunninghake, 2001; summary by Legendre et al., 2020). Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Although older studies included several forms of interstitial pneumonia under the term 'idiopathic pulmonary fibrosis,' the clinical label of 'idiopathic pulmonary fibrosis' should be reserved for patients with a specific form of fibrosing interstitial pneumonia referred to as usual interstitial pneumonia (Gross and Hunninghake, 2001). It is estimated that 0.5 to 2.2% of cases of idiopathic pulmonary fibrosis are familial (Marshall et al., 2000). Gross and Hunninghake (2001) reviewed idiopathic pulmonary fibrosis, emphasizing definition, pathogenesis, diagnosis, natural history, and therapy. Antoniou et al. (2004) provided a 'top ten list' of references pertaining to etiopathogenesis, prognosis, diagnosis, therapy, and other aspects of idiopathic pulmonary fibrosis. For a discussion of genetic heterogeneity of ILD, see ILD1 (619611). Pulmonary fibrosis can also be a feature in patients with mutations in the TERT (187270) or the TERC (602322) gene; see PFBMFT1 (614742) and PFBMFT2 (614743). Some patients with surfactant protein C deficiency (610913) who survive to adulthood manifest features of pulmonary fibrosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794136">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794231"><div><strong>Interstitial lung disease 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794231</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5562021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (summary by Nathan et al., 2016, Doubkova et al., 2019). Genetic Heterogeneity of Interstitial Lung Disease See also ILD2 (178500), caused by mutation in the SFTPA2 gene (178642) on chromosome 10q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841132"><div><strong>Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841132</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-8 (PFBMFT8) is an autosomal dominant disorder characterized by the onset of progressive pulmonary fibrosis in adulthood. Some affected individuals have signs of bone marrow failure, such as thrombocytopenia, or liver dysfunction, including hepatopulmonary syndrome. Other features of dyskeratosis congenita, including premature graying of the hair, may be observed. Telomeres are shortened compared to controls (Kelich et al., 2022). For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (614742).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841132">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800821" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune interstitial lung disease-arthritis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune pulmonary alveolar proteinosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_698415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inherited pseudoxanthoma elasticum</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial pulmonary capillary hemangiomatosis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1711127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interstitial lung disease 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interstitial lung disease 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Niemann-Pick disease, type B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901644" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903928" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Surfactant metabolism dysfunction, pulmonary, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Surfactant metabolism dysfunction, pulmonary, 4</a></div></span></div></div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/39009283">Use of mycophenolate mofetil for the treatment of fibrotic hypersensitivity pneumonitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casal A,
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Suárez-Antelo J,
|
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Gude F,
|
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Lado-Baleato Ó,
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Otero B,
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Toubes ME,
|
||
Ferreiro L,
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||
Rodríguez-Núñez N,
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||
Valdés L</span><br />
|
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<span class="medgenPMjournal">Am J Med Sci</span>
|
||
2025 Jan;369(1):24-34.
|
||
Epub 2024 Jul 14
|
||
doi: 10.1016/j.amjms.2024.07.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39009283" target="_blank">39009283</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36477171">Assessment of risk factors in patients with rheumatoid arthritis-associated interstitial lung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Severo CR,
|
||
Chomiski C,
|
||
Valle MBD,
|
||
Escuissato DL,
|
||
Paiva EDS,
|
||
Storrer KM</span><br />
|
||
<span class="medgenPMjournal">J Bras Pneumol</span>
|
||
2022;48(6):e20220145.
|
||
Epub 2022 Dec 2
|
||
doi: 10.36416/1806-3756/e20220145.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36477171" target="_blank">36477171</a><a href="/pmc/articles/PMC9720882" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22decreased%20dlco%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37569056">Does Decreased Diffusing Capacity of the Lungs for Carbon Monoxide Constitute a Risk of Decompression Sickness in Occupational Divers?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loddé B,
|
||
Giroux-Metges MA,
|
||
Galinat H,
|
||
Kerspern H,
|
||
Pougnet R,
|
||
Saliou P,
|
||
Guerrero F,
|
||
Lafère P</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2023 Aug 3;20(15)
|
||
doi: 10.3390/ijerph20156516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37569056" target="_blank">37569056</a><a href="/pmc/articles/PMC10418885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36082926">Association between DLCO index and the severity of heart failure: a cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izadi S,
|
||
Esmaili S,
|
||
Emami S,
|
||
Izadi S,
|
||
Eskandari M,
|
||
Yadollahzadeh M,
|
||
Saleh M,
|
||
Khavandegar A,
|
||
Bakhtiyari M</span><br />
|
||
<span class="medgenPMjournal">Acta Cardiol</span>
|
||
2023 Apr;78(2):250-255.
|
||
Epub 2022 Sep 9
|
||
doi: 10.1080/00015385.2022.2066776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36082926" target="_blank">36082926</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34301306">The lungs were on fire: a pilot study of (18)F-FDG PET/CT in idiopathic-inflammatory-myopathy-related interstitial lung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang J,
|
||
Cao H,
|
||
Liu Y,
|
||
Ye B,
|
||
Sun Y,
|
||
Ke Y,
|
||
He Y,
|
||
Xu B,
|
||
Lin J</span><br />
|
||
<span class="medgenPMjournal">Arthritis Res Ther</span>
|
||
2021 Jul 23;23(1):198.
|
||
doi: 10.1186/s13075-021-02578-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34301306" target="_blank">34301306</a><a href="/pmc/articles/PMC8298695" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31827650">Valuable Serum Markers in Pulmonary Alveolar Proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi S,
|
||
Chen L,
|
||
Qiu X,
|
||
Zhao Q,
|
||
Xiao Y,
|
||
Yan X</span><br />
|
||
<span class="medgenPMjournal">Dis Markers</span>
|
||
2019;2019:9709531.
|
||
Epub 2019 Nov 11
|
||
doi: 10.1155/2019/9709531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31827650" target="_blank">31827650</a><a href="/pmc/articles/PMC6885220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16738195">Pulmonary function testing in idiopathic interstitial pneumonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez FJ,
|
||
Flaherty K</span><br />
|
||
<span class="medgenPMjournal">Proc Am Thorac Soc</span>
|
||
2006 Jun;3(4):315-21.
|
||
doi: 10.1513/pats.200602-022TK.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16738195" target="_blank">16738195</a><a href="/pmc/articles/PMC2658684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20DLCO%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (38)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38088247">Diffusing capacity of lungs for carbon monoxide associated with subclinical myocardial impairment in systemic sclerosis: A cardiac MR study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He H,
|
||
Tong X,
|
||
Ning Z,
|
||
Zhou J,
|
||
Du C,
|
||
Wang Y,
|
||
Wang Q,
|
||
Xu D,
|
||
Zeng X,
|
||
He ZX,
|
||
Zhao X</span><br />
|
||
<span class="medgenPMjournal">RMD Open</span>
|
||
2023 Dec 7;9(4)
|
||
doi: 10.1136/rmdopen-2023-003391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38088247" target="_blank">38088247</a><a href="/pmc/articles/PMC10711892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36082926">Association between DLCO index and the severity of heart failure: a cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izadi S,
|
||
Esmaili S,
|
||
Emami S,
|
||
Izadi S,
|
||
Eskandari M,
|
||
Yadollahzadeh M,
|
||
Saleh M,
|
||
Khavandegar A,
|
||
Bakhtiyari M</span><br />
|
||
<span class="medgenPMjournal">Acta Cardiol</span>
|
||
2023 Apr;78(2):250-255.
|
||
Epub 2022 Sep 9
|
||
doi: 10.1080/00015385.2022.2066776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36082926" target="_blank">36082926</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31174823">Serum concentration of surfactant protein D in patients with systemic sclerosis: The potential marker of the interstitial lung disease severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grosicka A,
|
||
Manasar A,
|
||
Kucharz EJ,
|
||
Kotyla PJ</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2018 Aug;32(4):541-549.
|
||
Epub 2019 Feb 14
|
||
doi: 10.1016/j.berh.2019.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31174823" target="_blank">31174823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24141729">Papilloedema is an independent prognostic factor for POEMS syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui R,
|
||
Yu S,
|
||
Huang X,
|
||
Zhang J,
|
||
Tian C,
|
||
Pu C</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2014 Jan;261(1):60-5.
|
||
Epub 2013 Oct 20
|
||
doi: 10.1007/s00415-013-7143-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24141729" target="_blank">24141729</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16738195">Pulmonary function testing in idiopathic interstitial pneumonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez FJ,
|
||
Flaherty K</span><br />
|
||
<span class="medgenPMjournal">Proc Am Thorac Soc</span>
|
||
2006 Jun;3(4):315-21.
|
||
doi: 10.1513/pats.200602-022TK.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16738195" target="_blank">16738195</a><a href="/pmc/articles/PMC2658684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20DLCO%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37569056">Does Decreased Diffusing Capacity of the Lungs for Carbon Monoxide Constitute a Risk of Decompression Sickness in Occupational Divers?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loddé B,
|
||
Giroux-Metges MA,
|
||
Galinat H,
|
||
Kerspern H,
|
||
Pougnet R,
|
||
Saliou P,
|
||
Guerrero F,
|
||
Lafère P</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2023 Aug 3;20(15)
|
||
doi: 10.3390/ijerph20156516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37569056" target="_blank">37569056</a><a href="/pmc/articles/PMC10418885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33636454">First-in-human study of inhaled Azacitidine in patients with advanced non-small cell lung cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng H,
|
||
Zou Y,
|
||
Shah CD,
|
||
Fan N,
|
||
Bhagat TD,
|
||
Gucalp R,
|
||
Kim M,
|
||
Verma A,
|
||
Piperdi B,
|
||
Spivack SD,
|
||
Halmos B,
|
||
Perez-Soler R</span><br />
|
||
<span class="medgenPMjournal">Lung Cancer</span>
|
||
2021 Apr;154:99-104.
|
||
Epub 2021 Feb 17
|
||
doi: 10.1016/j.lungcan.2021.02.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33636454" target="_blank">33636454</a><a href="/pmc/articles/PMC8026712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31827650">Valuable Serum Markers in Pulmonary Alveolar Proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi S,
|
||
Chen L,
|
||
Qiu X,
|
||
Zhao Q,
|
||
Xiao Y,
|
||
Yan X</span><br />
|
||
<span class="medgenPMjournal">Dis Markers</span>
|
||
2019;2019:9709531.
|
||
Epub 2019 Nov 11
|
||
doi: 10.1155/2019/9709531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31827650" target="_blank">31827650</a><a href="/pmc/articles/PMC6885220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22119879">Adalimumab successful in sarcoidosis patients with refractory chronic non-infectious uveitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erckens RJ,
|
||
Mostard RL,
|
||
Wijnen PA,
|
||
Schouten JS,
|
||
Drent M</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2012 May;250(5):713-20.
|
||
Epub 2011 Nov 27
|
||
doi: 10.1007/s00417-011-1844-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22119879" target="_blank">22119879</a><a href="/pmc/articles/PMC3332360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1882255">Adult respiratory distress syndrome from sulfuric acid fume inhalation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knapp MJ,
|
||
Bunn WB,
|
||
Stave GM</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1991 Aug;84(8):1031-3.
|
||
doi: 10.1097/00007611-199108000-00021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1882255" target="_blank">1882255</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20DLCO%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36795727">Association between serum ferritin level and decreased diffusion capacity 3 months after the onset of COVID-19 pneumonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shinfuku K,
|
||
Takasaka N,
|
||
Fukuda T,
|
||
Chida K,
|
||
Suzuki Y,
|
||
Shibata S,
|
||
Kojima A,
|
||
Hasegawa T,
|
||
Yamada M,
|
||
Yamanaka Y,
|
||
Hosaka Y,
|
||
Seki A,
|
||
Seki Y,
|
||
Takeda H,
|
||
Ishikawa T,
|
||
Kuwano K</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(2):e0281249.
|
||
Epub 2023 Feb 16
|
||
doi: 10.1371/journal.pone.0281249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36795727" target="_blank">36795727</a><a href="/pmc/articles/PMC9934337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36082926">Association between DLCO index and the severity of heart failure: a cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izadi S,
|
||
Esmaili S,
|
||
Emami S,
|
||
Izadi S,
|
||
Eskandari M,
|
||
Yadollahzadeh M,
|
||
Saleh M,
|
||
Khavandegar A,
|
||
Bakhtiyari M</span><br />
|
||
<span class="medgenPMjournal">Acta Cardiol</span>
|
||
2023 Apr;78(2):250-255.
|
||
Epub 2022 Sep 9
|
||
doi: 10.1080/00015385.2022.2066776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36082926" target="_blank">36082926</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34301306">The lungs were on fire: a pilot study of (18)F-FDG PET/CT in idiopathic-inflammatory-myopathy-related interstitial lung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang J,
|
||
Cao H,
|
||
Liu Y,
|
||
Ye B,
|
||
Sun Y,
|
||
Ke Y,
|
||
He Y,
|
||
Xu B,
|
||
Lin J</span><br />
|
||
<span class="medgenPMjournal">Arthritis Res Ther</span>
|
||
2021 Jul 23;23(1):198.
|
||
doi: 10.1186/s13075-021-02578-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34301306" target="_blank">34301306</a><a href="/pmc/articles/PMC8298695" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31827650">Valuable Serum Markers in Pulmonary Alveolar Proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi S,
|
||
Chen L,
|
||
Qiu X,
|
||
Zhao Q,
|
||
Xiao Y,
|
||
Yan X</span><br />
|
||
<span class="medgenPMjournal">Dis Markers</span>
|
||
2019;2019:9709531.
|
||
Epub 2019 Nov 11
|
||
doi: 10.1155/2019/9709531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31827650" target="_blank">31827650</a><a href="/pmc/articles/PMC6885220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16738195">Pulmonary function testing in idiopathic interstitial pneumonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez FJ,
|
||
Flaherty K</span><br />
|
||
<span class="medgenPMjournal">Proc Am Thorac Soc</span>
|
||
2006 Jun;3(4):315-21.
|
||
doi: 10.1513/pats.200602-022TK.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16738195" target="_blank">16738195</a><a href="/pmc/articles/PMC2658684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20DLCO%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36082926">Association between DLCO index and the severity of heart failure: a cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izadi S,
|
||
Esmaili S,
|
||
Emami S,
|
||
Izadi S,
|
||
Eskandari M,
|
||
Yadollahzadeh M,
|
||
Saleh M,
|
||
Khavandegar A,
|
||
Bakhtiyari M</span><br />
|
||
<span class="medgenPMjournal">Acta Cardiol</span>
|
||
2023 Apr;78(2):250-255.
|
||
Epub 2022 Sep 9
|
||
doi: 10.1080/00015385.2022.2066776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36082926" target="_blank">36082926</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35870662">An assessment of post-COVID-19 infection pulmonary functions in healthcare professionals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gülhan PY,
|
||
Arbak PM,
|
||
Annakkaya AN,
|
||
Balbay EG,
|
||
Balbay ÖA</span><br />
|
||
<span class="medgenPMjournal">Am J Infect Control</span>
|
||
2022 Oct;50(10):1125-1132.
|
||
Epub 2022 Jul 20
|
||
doi: 10.1016/j.ajic.2022.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35870662" target="_blank">35870662</a><a href="/pmc/articles/PMC9296374" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/31827650">Valuable Serum Markers in Pulmonary Alveolar Proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi S,
|
||
Chen L,
|
||
Qiu X,
|
||
Zhao Q,
|
||
Xiao Y,
|
||
Yan X</span><br />
|
||
<span class="medgenPMjournal">Dis Markers</span>
|
||
2019;2019:9709531.
|
||
Epub 2019 Nov 11
|
||
doi: 10.1155/2019/9709531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31827650" target="_blank">31827650</a><a href="/pmc/articles/PMC6885220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/31174823">Serum concentration of surfactant protein D in patients with systemic sclerosis: The potential marker of the interstitial lung disease severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grosicka A,
|
||
Manasar A,
|
||
Kucharz EJ,
|
||
Kotyla PJ</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2018 Aug;32(4):541-549.
|
||
Epub 2019 Feb 14
|
||
doi: 10.1016/j.berh.2019.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31174823" target="_blank">31174823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16738195">Pulmonary function testing in idiopathic interstitial pneumonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez FJ,
|
||
Flaherty K</span><br />
|
||
<span class="medgenPMjournal">Proc Am Thorac Soc</span>
|
||
2006 Jun;3(4):315-21.
|
||
doi: 10.1513/pats.200602-022TK.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16738195" target="_blank">16738195</a><a href="/pmc/articles/PMC2658684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20DLCO%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (36)</a></div></div>
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