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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 MENTAL RETARDATION
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

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
Reproductive health and genetic testing in the Third World.
Penchaszadeh VB
Clin Obstet Gynecol 1993 Sep;36(3):485-95. doi: 10.1097/00003081-199309000-00007. PMID: 8403600
Genetic screening.
Childs B
Annu Rev Genet 1975;9:67-89. doi: 10.1146/annurev.ge.09.120175.000435. PMID: 129030

Recent clinical studies

Etiology

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
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
Twin-twin transfusion and laser therapy.
Behrendt N, Galan HL
Curr Opin Obstet Gynecol 2016 Apr;28(2):79-85. doi: 10.1097/GCO.0000000000000247. PMID: 26871537

Diagnosis

Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.
Farrell MH, Sims AM, La Pean Kirschner A, Farrell PM, Tarini BA
J Pediatr 2020 Sep;224:44-50.e1. doi: 10.1016/j.jpeds.2020.03.042. PMID: 32826027Free PMC Article
Diagnosis of monogenic chronic kidney diseases.
Armstrong ME, Thomas CP
Curr Opin Nephrol Hypertens 2019 Mar;28(2):183-194. doi: 10.1097/MNH.0000000000000486. PMID: 30601180
Fetal Surgery and Delayed Cord Clamping: Neonatal Implications.
Frank KM
Crit Care Nurs Clin North Am 2018 Dec;30(4):499-507. Epub 2018 Oct 16 doi: 10.1016/j.cnc.2018.07.006. PMID: 30447809
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
Health inequity in children and youth with chronic health conditions.
Berry JG, Bloom S, Foley S, Palfrey JS
Pediatrics 2010 Dec;126 Suppl 3:S111-9. doi: 10.1542/peds.2010-1466D. PMID: 21123473

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
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

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
Sclerosing cholangitis in the paediatric patient.
Mieli-Vergani G, Vergani D
Best Pract Res Clin Gastroenterol 2001 Aug;15(4):681-90. doi: 10.1053/bega.2001.0213. PMID: 11492976
Pathology of human immunodeficiency virus infection: noninfectious conditions.
Klassen MK, Lewin-Smith M, Frankel SS, Nelson AM
Ann Diagn Pathol 1997 Oct;1(1):57-64. doi: 10.1016/s1092-9134(97)80009-3. PMID: 9869826
The nephronophthisis complex: clinical and genetic aspects.
Hildebrandt F, Waldherr R, Kutt R, Brandis M
Clin Investig 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. PMID: 1450635
Use and safety of elevated dosages of vitamin E in infants and children.
Mino M
Int J Vitam Nutr Res Suppl 1989;30:69-80. PMID: 2507708

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
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
Treatment for avascular necrosis of bone in people with sickle cell disease.
Martí-Carvajal AJ, Solà I, Agreda-Pérez LH
Cochrane Database Syst Rev 2012 May 16;(5):CD004344. doi: 10.1002/14651858.CD004344.pub4. PMID: 22592696

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
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

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