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Cystic fibrosis-gastritis-megaloblastic anemia syndrome

MedGen UID:
812585
•Concept ID:
C3806255
•
Disease or Syndrome
Synonym: CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009062
OMIM®: 219721
Orphanet: ORPHA2575

Definition

A rare genetic disease characterized by cystic fibrosis, gastritis associated with <i>Helicobacter pylori</i>, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCystic fibrosis-gastritis-megaloblastic anemia syndrome

Professional guidelines

PubMed

Computer and mobile technology interventions to promote medication adherence and disease management in people with thalassemia.
Badawy SM, Morrone K, Thompson A, Palermo TM
Cochrane Database Syst Rev 2019 Jun 28;6(6):CD012900. doi: 10.1002/14651858.CD012900.pub2. PMID: 31250923Free PMC Article
Genetic screening.
Childs B
Annu Rev Genet 1975;9:67-89. doi: 10.1146/annurev.ge.09.120175.000435. PMID: 129030
GENETIC PROGNOSIS AND COUNSELING.
MOTULSKY AG, HECHT F
Am J Obstet Gynecol 1964 Dec 1;90:SUPPL:1227-41. doi: 10.1016/0002-9378(64)90843-9. PMID: 14231697

Recent clinical studies

Etiology

Updates in Pediatric Sickle Cell Lung Disease.
Gillespie M, Afolabi-Brown O, Machogu E, Willen S, Kopp BT
Clin Chest Med 2024 Sep;45(3):749-760. doi: 10.1016/j.ccm.2024.02.022. PMID: 39069335
Epidemiology of small intestinal bacterial overgrowth.
Efremova I, Maslennikov R, Poluektova E, Vasilieva E, Zharikov Y, Suslov A, Letyagina Y, Kozlov E, Levshina A, Ivashkin V
World J Gastroenterol 2023 Jun 14;29(22):3400-3421. doi: 10.3748/wjg.v29.i22.3400. PMID: 37389240Free PMC Article
Hydroxyurea (hydroxycarbamide) for sickle cell disease.
Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Prevalence and Etiology of Community-acquired Pneumonia in Immunocompromised Patients.
Di Pasquale MF, Sotgiu G, Gramegna A, Radovanovic D, Terraneo S, Reyes LF, Rupp J, González Del Castillo J, Blasi F, Aliberti S, Restrepo MI; GLIMP Investigators
Clin Infect Dis 2019 Apr 24;68(9):1482-1493. doi: 10.1093/cid/ciy723. PMID: 31222287Free PMC Article
Biliary manifestations of systemic diseases.
Babakhanian Z, Donovan JA
Gastrointest Endosc Clin N Am 2013 Apr;23(2):333-46. Epub 2013 Jan 30 doi: 10.1016/j.giec.2012.12.001. PMID: 23540964

Diagnosis

Updates in Pediatric Sickle Cell Lung Disease.
Gillespie M, Afolabi-Brown O, Machogu E, Willen S, Kopp BT
Clin Chest Med 2024 Sep;45(3):749-760. doi: 10.1016/j.ccm.2024.02.022. PMID: 39069335
Erythrocytosis and CKD: A Review.
Aoun M, Jadoul M, Anders HJ
Am J Kidney Dis 2024 Oct;84(4):495-506. Epub 2024 Apr 15 doi: 10.1053/j.ajkd.2024.02.015. PMID: 38621632
Biliary manifestations of systemic diseases.
Babakhanian Z, Donovan JA
Gastrointest Endosc Clin N Am 2013 Apr;23(2):333-46. Epub 2013 Jan 30 doi: 10.1016/j.giec.2012.12.001. PMID: 23540964
Fetal medicine.
Merrill DC, Weiner C
Curr Opin Obstet Gynecol 1992 Apr;4(2):273-9. PMID: 1571488
Genetic screening.
Childs B
Annu Rev Genet 1975;9:67-89. doi: 10.1146/annurev.ge.09.120175.000435. PMID: 129030

Therapy

Inhaled bronchodilators for acute chest syndrome in people with sickle cell disease.
Knight-Madden JM, Hambleton IR
Cochrane Database Syst Rev 2022 Dec 2;12(12):CD003733. doi: 10.1002/14651858.CD003733.pub5. PMID: 36458811Free PMC Article
Hydroxyurea (hydroxycarbamide) for sickle cell disease.
Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Treatment for avascular necrosis of bone in people with sickle cell disease.
Martí-Carvajal AJ, Solà I, Agreda-Pérez LH
Cochrane Database Syst Rev 2019 Dec 5;12(12):CD004344. doi: 10.1002/14651858.CD004344.pub7. PMID: 31803937Free PMC Article
Growth and growth hormone treatment in children with chronic diseases.
Pozzo AM, Kemp SF
Endocrinol Metab Clin North Am 2012 Dec;41(4):747-59. Epub 2012 Sep 13 doi: 10.1016/j.ecl.2012.07.001. PMID: 23099268
Zinc metabolism: basic, clinical, and behavioral aspects.
Gordon EF, Gordon RC, Passal DB
J Pediatr 1981 Sep;99(3):341-9. doi: 10.1016/s0022-3476(81)80315-0. PMID: 6455508

Prognosis

Epidemiology of small intestinal bacterial overgrowth.
Efremova I, Maslennikov R, Poluektova E, Vasilieva E, Zharikov Y, Suslov A, Letyagina Y, Kozlov E, Levshina A, Ivashkin V
World J Gastroenterol 2023 Jun 14;29(22):3400-3421. doi: 10.3748/wjg.v29.i22.3400. PMID: 37389240Free PMC Article
Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome.
Bezzerri V, Vella A, Gennaro GD, Ortolani R, Nicolis E, Cesaro S, Fabrizzi B, Bronte V, Corey SJ, Cipolli M
Pediatr Blood Cancer 2019 May;66(5):e27597. Epub 2019 Jan 2 doi: 10.1002/pbc.27597. PMID: 30604473Free PMC Article
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Kirschner M, Maurer A, Wlodarski MW, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Schwarz M, Bittenbring J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Brümmendorf TH, Beier F
Leukemia 2018 Aug;32(8):1762-1767. Epub 2018 Apr 2 doi: 10.1038/s41375-018-0125-x. PMID: 29749397
Attitudes towards carrier testing in minors: a systematic review.
Borry P, Fryns JP, Schotsmans P, Dierickx K
Genet Couns 2005;16(4):341-52. PMID: 16440876
Hypoproteinaemia, oedema, and anaemia: an unusual presentation of cystic fibrosis in dizygotic twins.
Blumenthal I, Fielding DW
Arch Dis Child 1980 Oct;55(10):812-4. doi: 10.1136/adc.55.10.812. PMID: 7192073Free PMC Article

Clinical prediction guides

Hydroxyurea (hydroxycarbamide) for sickle cell disease.
Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Treatment for avascular necrosis of bone in people with sickle cell disease.
Martí-Carvajal AJ, Solà I, Agreda-Pérez LH
Cochrane Database Syst Rev 2019 Dec 5;12(12):CD004344. doi: 10.1002/14651858.CD004344.pub7. PMID: 31803937Free PMC Article
Hydroxyurea (hydroxycarbamide) for sickle cell disease.
Nevitt SJ, Jones AP, Howard J
Cochrane Database Syst Rev 2017 Apr 20;4(4):CD002202. doi: 10.1002/14651858.CD002202.pub2. PMID: 28426137Free PMC Article
Treatment for avascular necrosis of bone in people with sickle cell disease.
Martí-Carvajal AJ, Solà I, Agreda-Pérez LH
Cochrane Database Syst Rev 2016 Aug 9;(8):CD004344. doi: 10.1002/14651858.CD004344.pub6. PMID: 27502327
Treatment for avascular necrosis of bone in people with sickle cell disease.
Martí-Carvajal AJ, Solà I, Agreda-Pérez LH
Cochrane Database Syst Rev 2014 Jul 10;(7):CD004344. doi: 10.1002/14651858.CD004344.pub5. PMID: 25009086

Recent systematic reviews

Inhaled bronchodilators for acute chest syndrome in people with sickle cell disease.
Knight-Madden JM, Hambleton IR
Cochrane Database Syst Rev 2022 Dec 2;12(12):CD003733. doi: 10.1002/14651858.CD003733.pub5. PMID: 36458811Free PMC Article
Hydroxyurea (hydroxycarbamide) for sickle cell disease.
Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Regular long-term red blood cell transfusions for managing chronic chest complications in sickle cell disease.
Estcourt LJ, Hopewell S, Trivella M, Hambleton IR, Cho G
Cochrane Database Syst Rev 2019 Oct 25;2019(10) doi: 10.1002/14651858.CD008360.pub5. PMID: 31684693Free PMC Article
Splenectomy for people with thalassaemia major or intermedia.
Sharma A, Easow Mathew M, Puri L
Cochrane Database Syst Rev 2019 Sep 17;9(9):CD010517. doi: 10.1002/14651858.CD010517.pub3. PMID: 31529486Free PMC Article
Treatment for avascular necrosis of bone in people with sickle cell disease.
Martí-Carvajal AJ, Solà I, Agreda-Pérez LH
Cochrane Database Syst Rev 2016 Aug 9;(8):CD004344. doi: 10.1002/14651858.CD004344.pub6. PMID: 27502327

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