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Congenital sodium diarrhea

MedGen UID:
78632
•Concept ID:
C0267663
•
Disease or Syndrome
Synonym: Congenital secretory diarrhea, sodium type
SNOMED CT: Congenital secretory diarrhea, sodium type (18805001); Congenital sodium diarrhea (18805001); Defective Na^+^/H^+^ exchange in jejunum AND/OR ileum (18805001); Non-syndromic congenital sodium diarrhea (18805001)
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 dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015170
Orphanet: ORPHA103908

Definition

A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital sodium diarrhea
Follow this link to review classifications for Congenital sodium diarrhea in Orphanet.

Professional guidelines

PubMed

A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations.
van Vugt AHM, Bijvelds MJC, de Jonge HR, Meijsen KF, Restin T, Bryant MB, Ballauff A, Koot B, Müller T, Houwen RHJ, Janecke AR, Middendorp S
Clin Transl Gastroenterol 2021 Nov 18;12(11):e00427. doi: 10.14309/ctg.0000000000000427. PMID: 34797252Free PMC Article

Recent clinical studies

Etiology

Approach to Congenital Diarrhea and Enteropathies (CODEs).
Kijmassuwan T, Balouch F
Indian J Pediatr 2024 Jun;91(6):598-605. Epub 2023 Dec 18 doi: 10.1007/s12098-023-04929-7. PMID: 38105403
Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases.
Macraigne L, Allaf B, Buffat C, Spaggiari E, Dimitrov G, Fabre A, Rosenblatt J, Dreux S
Prenat Diagn 2021 Mar;41(4):434-439. Epub 2021 Jan 3 doi: 10.1002/pd.5878. PMID: 33350492
Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.
Janecke AR, Heinz-Erian P, Müller T
J Pediatr Gastroenterol Nutr 2016 Aug;63(2):170-6. doi: 10.1097/MPG.0000000000001139. PMID: 26835907
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A
Hum Genet 2014 Mar;133(3):299-310. Epub 2013 Oct 19 doi: 10.1007/s00439-013-1380-6. PMID: 24142340
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR
Am J Hum Genet 2009 Feb;84(2):188-96. Epub 2009 Jan 29 doi: 10.1016/j.ajhg.2009.01.004. PMID: 19185281Free PMC Article

Diagnosis

Approach to Congenital Diarrhea and Enteropathies (CODEs).
Kijmassuwan T, Balouch F
Indian J Pediatr 2024 Jun;91(6):598-605. Epub 2023 Dec 18 doi: 10.1007/s12098-023-04929-7. PMID: 38105403
Successful therapy for congenital sodium diarrhea by enteral management: A case report.
Thorvilson DA, Skiba CC, Muzzy JD, Grindeland CJ, Mohamed MW
Nutrition 2023 Oct;114:112096. Epub 2023 May 25 doi: 10.1016/j.nut.2023.112096. PMID: 37399692
Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.
Dimitrov G, Bamberger S, Navard C, Dreux S, Badens C, Bourgeois P, Buffat C, Hugot JP, Fabre A
Eur J Med Genet 2019 Oct;62(10):103712. Epub 2019 Jul 2 doi: 10.1016/j.ejmg.2019.103712. PMID: 31276831
Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.
Janecke AR, Heinz-Erian P, Müller T
J Pediatr Gastroenterol Nutr 2016 Aug;63(2):170-6. doi: 10.1097/MPG.0000000000001139. PMID: 26835907
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.
Müller T, Wijmenga C, Phillips AD, Janecke A, Houwen RH, Fischer H, Ellemunter H, Frühwirth M, Offner F, Hofer S, Müller W, Booth IW, Heinz-Erian P
Gastroenterology 2000 Dec;119(6):1506-13. doi: 10.1053/gast.2000.20514. PMID: 11113072

Therapy

A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations.
van Vugt AHM, Bijvelds MJC, de Jonge HR, Meijsen KF, Restin T, Bryant MB, Ballauff A, Koot B, Müller T, Houwen RHJ, Janecke AR, Middendorp S
Clin Transl Gastroenterol 2021 Nov 18;12(11):e00427. doi: 10.14309/ctg.0000000000000427. PMID: 34797252Free PMC Article
Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.
Niederwanger C, Lechner S, König L, Janecke AR, Pototschnig C, Häussler B, Scholl-Bürgi S, Müller T, Heinz-Erian P
Eur J Med Res 2018 Mar 2;23(1):13. doi: 10.1186/s40001-018-0312-2. PMID: 29499739Free PMC Article
Treatment of an infant with congenital sodium diarrhea by oral rehydration.
Kidowaki T, Funaki H, Mizuta R, Nishiki T, Takada H
Acta Paediatr Jpn 1993 Feb;35(1):49-52. doi: 10.1111/j.1442-200x.1993.tb03005.x. PMID: 8460545

Prognosis

SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.
Huang N, Wang Q, Bernard RB, Chen CY, Hu JM, Wang JK, Chan KS, Johnson MD, Lin CY
Hum Mol Genet 2024 Apr 18;33(9):752-767. doi: 10.1093/hmg/ddae005. PMID: 38271183Free PMC Article
Approach to Congenital Diarrhea and Enteropathies (CODEs).
Kijmassuwan T, Balouch F
Indian J Pediatr 2024 Jun;91(6):598-605. Epub 2023 Dec 18 doi: 10.1007/s12098-023-04929-7. PMID: 38105403
Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases.
Macraigne L, Allaf B, Buffat C, Spaggiari E, Dimitrov G, Fabre A, Rosenblatt J, Dreux S
Prenat Diagn 2021 Mar;41(4):434-439. Epub 2021 Jan 3 doi: 10.1002/pd.5878. PMID: 33350492
PERIPHERAL RETINAL DRUSEN-LIKE DEPOSITS IN GUCY2C CONGENITAL SECRETORY DIARRHEA SYNDROME.
Cugley D, Brislane N, Guymer R, Carden S
Retin Cases Brief Rep 2021 Jan 1;15(1):89-92. doi: 10.1097/ICB.0000000000000748. PMID: 29979251
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A
Am J Med Genet A 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637. PMID: 29575628Free PMC Article

Clinical prediction guides

SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.
Huang N, Wang Q, Bernard RB, Chen CY, Hu JM, Wang JK, Chan KS, Johnson MD, Lin CY
Hum Mol Genet 2024 Apr 18;33(9):752-767. doi: 10.1093/hmg/ddae005. PMID: 38271183Free PMC Article
Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases.
Macraigne L, Allaf B, Buffat C, Spaggiari E, Dimitrov G, Fabre A, Rosenblatt J, Dreux S
Prenat Diagn 2021 Mar;41(4):434-439. Epub 2021 Jan 3 doi: 10.1002/pd.5878. PMID: 33350492
PERIPHERAL RETINAL DRUSEN-LIKE DEPOSITS IN GUCY2C CONGENITAL SECRETORY DIARRHEA SYNDROME.
Cugley D, Brislane N, Guymer R, Carden S
Retin Cases Brief Rep 2021 Jan 1;15(1):89-92. doi: 10.1097/ICB.0000000000000748. PMID: 29979251
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A
Am J Med Genet A 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637. PMID: 29575628Free PMC Article
Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea.
Chen CP, Chiang MC, Wang TH, Hsueh C, Chang SD, Tsai FJ, Wang CN, Chern SR, Wang W
Taiwan J Obstet Gynecol 2010 Dec;49(4):487-94. doi: 10.1016/S1028-4559(10)60102-7. PMID: 21199752

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