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<!--
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UID=108598
|
||
ConceptID=C0597167
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pancreatic islet-cell hyperplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108598</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.">C0597167</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hyperplastic islets of Langerhans; Islets of Langerhans hyperplasia; Islets of Langerhans hypertrophy; Pancreatic islet-cell hypertrophy</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:0004510">HP:0004510</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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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">Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. [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>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></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">Pancreatic islet-cell hyperplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/867396" ref="tree=MeSH" title="MedGen record for Abnormality of the abdominal organs">Abnormality of the abdominal organs</a></span><ul><li><span class="TLline"><a href="/medgen/892541" ref="tree=MeSH" title="MedGen record for Abnormality of the pancreas">Abnormality of the pancreas</a></span><ul><li><span class="TLline"><a href="/medgen/868647" ref="tree=MeSH" title="MedGen record for Abnormality of pancreas physiology">Abnormality of pancreas physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868646" ref="tree=MeSH" title="MedGen record for Abnormality of endocrine pancreas physiology">Abnormality of endocrine pancreas physiology</a></span><ul><li><span class="TLline"><a href="/medgen/870594" ref="tree=MeSH" title="MedGen record for Abnormality of the pancreatic islet cells">Abnormality of the pancreatic islet cells</a></span><ul><li><span class="matched_ds">Pancreatic islet-cell hyperplasia</span><ul><li><span class="TLline"><a href="/medgen/1616488" ref="tree=MeSH" title="MedGen record for Diffuse pancreatic islet hyperplasia">Diffuse pancreatic islet hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/1614525" ref="tree=MeSH" title="MedGen record for Focal pancreatic islet hyperplasia">Focal pancreatic islet hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/1800812" ref="tree=MeSH" title="MedGen record for Pancreatic alpha-cell hyperplasia">Pancreatic alpha-cell hyperplasia</a></span></li></ul></li></ul></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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<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_82708"><div><strong>Leprechaunism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82708</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.">C0265344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">INSR-related severe insulin resistance syndrome (INSR-SIRS) comprises a phenotypic spectrum that is a continuum from the severe phenotype of Donohue syndrome to the milder phenotype of Rabson-Mendenhall syndrome (RMS). Donohue syndrome is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction, postnatal growth failure, hypotonia, developmental delay, characteristic facies (proptosis, infraorbital folds, large, low-set, posteriorly rotated ears, thick vermilion of the upper and lower lips, and gingival hypertrophy), and organomegaly involving the heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS, at the milder end of the spectrum, is characterized by severe insulin resistance that, although not as severe as that of Donohue syndrome, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of Donohue syndrome. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82708">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75688"><div><strong>Tyrosinemia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75688</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.">C0268490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75688">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162909"><div><strong>Perlman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162909</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.">C0796113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162909">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162917"><div><strong>Simpson-Golabi-Behmel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162917</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."><span class="highlight" style="background-color:">C0796154</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal issues. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162917">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_351246"><div><strong>Exercise-induced hyperinsulinism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351246</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.">C1864902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.\n\nCongenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351246">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_418969"><div><strong>Greenberg dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418969</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.">C2931048</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Greenberg dysplasia (GRBGD), also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/418969">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419505"><div><strong>Hyperinsulinemic hypoglycemia, familial, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419505</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.">C2931832</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). Genetic Heterogeneity of Hyperinsulinemic Hypoglycemia HHF2 (601820) is caused by mutation in the KCNJ11 gene (600937) on chromosome 11p15. HHF3 (602485) is caused by mutation in the glucokinase gene (GCK; 138079) on chromosome 7p13. HHF4 (609975) is caused by mutation in the HADH gene (601609) on chromosome 4q25. HHF5 (609968) is caused by mutation in the insulin receptor gene (INSR; 147670) on chromosome 19p13. HHF6 (606762) is caused by mutation in the GLUD1 gene (138130) on chromosome 10q23. HHF7 (610021) is caused by mutation in the SLC16A1 (600682) on chromosome 1p13. There is evidence of further genetic heterogeneity of HHF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419505">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419173"><div><strong>Hyperinsulinemic hypoglycemia, familial, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419173</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.">C2931833</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.\n\nThe severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419173">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_351246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced hyperinsulinism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Greenberg dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419505" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperinsulinemic hypoglycemia, familial, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419173" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperinsulinemic hypoglycemia, familial, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leprechaunism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perlman syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simpson-Golabi-Behmel syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type I</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/2218837">Surgical management of islet cell dysmaturation syndrome in young children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bjerke HS,
|
||
Kelly RE Jr,
|
||
Geffner ME,
|
||
Fonkalsrud EW</span><br />
|
||
<span class="medgenPMjournal">Surg Gynecol Obstet</span>
|
||
1990 Oct;171(4):321-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2218837" target="_blank">2218837</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pancreatic%20islet-cell%20hyperplasia%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 (1)</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/31800970">Infant Death Following Home Birth: A Case Report of Fatal Neonatal Hypoglycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schuppener LM,
|
||
Corliss RF</span><br />
|
||
<span class="medgenPMjournal">J Forensic Sci</span>
|
||
2020 May;65(3):995-998.
|
||
Epub 2019 Dec 4
|
||
doi: 10.1111/1556-4029.14247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31800970" target="_blank">31800970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21107780">Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pronicka E,
|
||
Węglewska-Jurkiewicz A,
|
||
Taybert J,
|
||
Pronicki M,
|
||
Szymańska-Dębińska T,
|
||
Karkucińska-Więckowska A,
|
||
Jakóbkiewicz-Banecka J,
|
||
Kowalski P,
|
||
Piekutowska-Abramczuk D,
|
||
Pajdowska M,
|
||
Socha P,
|
||
Sykut-Cegielska J,
|
||
Węgrzyn G</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2011 Feb;52(1):61-6.
|
||
Epub 2010 Nov 16
|
||
doi: 10.1007/s13353-010-0008-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21107780" target="_blank">21107780</a><a href="/pmc/articles/PMC3026684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11111213">Prenatal diagnosis of smith-magenis syndrome (del 17p11.2).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas DG,
|
||
Jacques SM,
|
||
Flore LA,
|
||
Feldman B,
|
||
Evans MI,
|
||
Qureshi F</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2000 Nov-Dec;15(6):335-7.
|
||
doi: 10.1159/000021032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11111213" target="_blank">11111213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1625067">Iron deficiency of liver, heart, and brain in newborn infants of diabetic mothers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petry CD,
|
||
Eaton MA,
|
||
Wobken JD,
|
||
Mills MM,
|
||
Johnson DE,
|
||
Georgieff MK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1992 Jul;121(1):109-14.
|
||
doi: 10.1016/s0022-3476(05)82554-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1625067" target="_blank">1625067</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancreatic%20islet-cell%20hyperplasia%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31800970">Infant Death Following Home Birth: A Case Report of Fatal Neonatal Hypoglycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schuppener LM,
|
||
Corliss RF</span><br />
|
||
<span class="medgenPMjournal">J Forensic Sci</span>
|
||
2020 May;65(3):995-998.
|
||
Epub 2019 Dec 4
|
||
doi: 10.1111/1556-4029.14247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31800970" target="_blank">31800970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11111213">Prenatal diagnosis of smith-magenis syndrome (del 17p11.2).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas DG,
|
||
Jacques SM,
|
||
Flore LA,
|
||
Feldman B,
|
||
Evans MI,
|
||
Qureshi F</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2000 Nov-Dec;15(6):335-7.
|
||
doi: 10.1159/000021032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11111213" target="_blank">11111213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3812577">Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curry CJ,
|
||
Carey JC,
|
||
Holland JS,
|
||
Chopra D,
|
||
Fineman R,
|
||
Golabi M,
|
||
Sherman S,
|
||
Pagon RA,
|
||
Allanson J,
|
||
Shulman S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1987 Jan;26(1):45-57.
|
||
doi: 10.1002/ajmg.1320260110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3812577" target="_blank">3812577</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6336883">Hyperinsulinemic hypoglycemia in adults with islet-cell hyperplasia and degranulation of exocrine cells of the pancreas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weidenheim KM,
|
||
Hinchey WW,
|
||
Campbell WG Jr</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Pathol</span>
|
||
1983 Jan;79(1):14-24.
|
||
doi: 10.1093/ajcp/79.1.14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6336883" target="_blank">6336883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6452013">The relationship between the hyperplastic pancreatic islet and insulin insensitivity in obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahler RJ</span><br />
|
||
<span class="medgenPMjournal">Acta Diabetol Lat</span>
|
||
1981;18(1):1-17.
|
||
doi: 10.1007/BF02056101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6452013" target="_blank">6452013</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancreatic%20islet-cell%20hyperplasia%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 (5)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/375726">Mild chronic watery diarrhea-hypokalemia syndrome associated with pancreatic islet cell hyperplasia. Elevated plasma and tissue levels of gastric inhibitory polypeptide and successful management with nicotinic acid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kidd GS,
|
||
Donowitz M,
|
||
O'Dorisio T,
|
||
Cataland S,
|
||
Newman F</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
1979 May;66(5):883-8.
|
||
doi: 10.1016/0002-9343(79)91147-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/375726" target="_blank">375726</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/342355">Chronic laxative abuse associated with pancreatic islet cell hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lesna M,
|
||
Hamlyn AN,
|
||
Venables CW,
|
||
Record CO</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
1977 Dec;18(12):1032-5.
|
||
doi: 10.1136/gut.18.12.1032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/342355" target="_blank">342355</a><a href="/pmc/articles/PMC1411831" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancreatic%20islet-cell%20hyperplasia%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31800970">Infant Death Following Home Birth: A Case Report of Fatal Neonatal Hypoglycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schuppener LM,
|
||
Corliss RF</span><br />
|
||
<span class="medgenPMjournal">J Forensic Sci</span>
|
||
2020 May;65(3):995-998.
|
||
Epub 2019 Dec 4
|
||
doi: 10.1111/1556-4029.14247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31800970" target="_blank">31800970</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancreatic%20islet-cell%20hyperplasia%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21107780">Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pronicka E,
|
||
Węglewska-Jurkiewicz A,
|
||
Taybert J,
|
||
Pronicki M,
|
||
Szymańska-Dębińska T,
|
||
Karkucińska-Więckowska A,
|
||
Jakóbkiewicz-Banecka J,
|
||
Kowalski P,
|
||
Piekutowska-Abramczuk D,
|
||
Pajdowska M,
|
||
Socha P,
|
||
Sykut-Cegielska J,
|
||
Węgrzyn G</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2011 Feb;52(1):61-6.
|
||
Epub 2010 Nov 16
|
||
doi: 10.1007/s13353-010-0008-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21107780" target="_blank">21107780</a><a href="/pmc/articles/PMC3026684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15384101">Costello syndrome with pancreatic islet cell hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dickson PI,
|
||
Briones NY,
|
||
Baylen BG,
|
||
Jonas AJ,
|
||
French SW,
|
||
Lin HJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2004 Nov 1;130A(4):402-5.
|
||
doi: 10.1002/ajmg.a.30288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15384101" target="_blank">15384101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2545178">Bilateral diffuse nephroblastomatosis, pancortical type. A case report with immunohistochemical investigations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murata T,
|
||
Yoshida T,
|
||
Takanari H,
|
||
Toyoda N,
|
||
Sakakura T,
|
||
Liu PI</span><br />
|
||
<span class="medgenPMjournal">Arch Pathol Lab Med</span>
|
||
1989 Jul;113(7):729-34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2545178" target="_blank">2545178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pancreatic%20islet-cell%20hyperplasia%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 (3)</a></div></div>
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