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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

Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working Party.
Cesaro S, Donadieu J, Cipolli M, Dalle JH, Styczynski J, Masetti R, Strahm B, Mauro M, Alseraihy A, Aljurf M, Dufour C, de la Tour RP
Transplant Cell Ther 2022 Oct;28(10):637-649. Epub 2022 Jul 20 doi: 10.1016/j.jtct.2022.07.010. PMID: 35870777
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
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
Selected disorders of malabsorption.
Siddiqui Z, Osayande AS
Prim Care 2011 Sep;38(3):395-414; vii. doi: 10.1016/j.pop.2011.05.002. PMID: 21872088

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

Interventions for chronic kidney disease in people with sickle cell disease.
Roy NB, Carpenter A, Dale-Harris I, Dorée C, Estcourt LJ
Cochrane Database Syst Rev 2023 Aug 4;8(8):CD012380. doi: 10.1002/14651858.CD012380.pub3. PMID: 37539955Free PMC Article
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

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
Interventions for preventing silent cerebral infarcts in people with sickle cell disease.
Estcourt LJ, Fortin PM, Hopewell S, Trivella M, Doree C, Abboud MR
Cochrane Database Syst Rev 2017 May 13;5(5):CD012389. doi: 10.1002/14651858.CD012389.pub2. PMID: 28500860Free 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
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

Interventions for chronic kidney disease in people with sickle cell disease.
Roy NB, Carpenter A, Dale-Harris I, Dorée C, Estcourt LJ
Cochrane Database Syst Rev 2023 Aug 4;8(8):CD012380. doi: 10.1002/14651858.CD012380.pub3. PMID: 37539955Free PMC Article
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

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