Research & Literature

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

Müller T, Rasool I, Heinz-Erian P, et al.

Gut 2016; (65(8)):1306-13 doi:10.1136/gutjnl-2015-309441.

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

Janecke AR, Heinz-Erian P, Yin J, et al.

Human molecular genetics 2015; (24(23)):6614-23 doi:10.1093/hmg/ddv367.

Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.

Janecke AR, Heinz-Erian P, Müller T

Journal of pediatric gastroenterology and nutrition 2016; (63(2)):170-6 doi:10.1097/MPG.0000000000001139.

Selective Inhibition of Prostasin in Human Enterocytes by the Integral Membrane Kunitz-Type Serine Protease Inhibitor HAI-2.

Shiao F, Liu LO, Huang N, et al.

PloS one 2017; (12(1)):e0170944 doi:10.1371/journal.pone.0170944.

Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.

Bou Chaaya S, Eason JD, Ofoegbu BN

BMJ case reports 2017; (2017()) doi:10.1136/bcr-2016-217464.

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, et al.

American journal of medical genetics. Part A 2018; (176(4)):997-1000 doi:10.1002/ajmg.a.38637.

Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea.

Tronstad RR, Polushina T, Brattbakk HR, et al.

Scandinavian journal of gastroenterology 2018; (53(10-11)):1264-1273 doi:10.1080/00365521.2018.1521867.

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.

Holt-Danborg L, Vodopiutz J, Nonboe AW, et al.

Human molecular genetics 2019; (28(5)):828-841 doi:10.1093/hmg/ddy394.

Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.

Dimitrov G, Bamberger S, Navard C, et al.

European journal of medical genetics 2019; (62(10)):103712 doi:10.1016/j.ejmg.2019.103712.

The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.

Ben-David Y, Halevy R, Sakran W, et al.

European journal of medical genetics 2019; (62(10)):103728 doi:10.1016/j.ejmg.2019.103728.

Matriptase drives early-onset intestinal failure in a mouse model of congenital tufting enteropathy.

Szabo R, Callies LK, Bugge TH

Development (Cambridge, England) 2019; (146(22)) doi:10.1242/dev.183392.

New Insights Into the Indications for Intestinal Transplantation: Consensus in the Year 2019.

Kaufman SS, Avitzur Y, Beath SV, et al.

Transplantation 2020; (104(5)):937-946 doi:10.1097/TP.0000000000003065.

An inducible intestinal epithelial cell-specific NHE3 knockout mouse model mimicking congenital sodium diarrhea.

Xue J, Thomas L, Tahmasbi M, et al.

Clinical science (London, England : 1979) 2020; (134(8)):941-953 doi:10.1042/CS20200065.

Updates on bone health in children with gastrointestinal diseases.

Yang HR

Annals of pediatric endocrinology & metabolism 2020; (25(1)):10-14 doi:10.6065/apem.2020.25.1.10.

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, et al.

Prenatal diagnosis 2021; (41(4)):434-439 doi:10.1002/pd.5878.

Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea.

Ernst J, Hiasat J, Alabek ML, et al.

American journal of medical genetics. Part A 2021; (185(4)):1270-1274 doi:10.1002/ajmg.a.62094.

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.

Bamgbola OF, Ahmed Y

Clinical kidney journal 2021; (14(1)):36-48 doi:10.1093/ckj/sfaa172.

Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.

Wolfe RM, Mohsen AW, Walsh Vockley C, et al.

American journal of medical genetics. Part A 2021; (185(7)):2046-2055 doi:10.1002/ajmg.a.62207.

Targeted HAI-2 deletion causes excessive proteolysis with prolonged active prostasin and depletion of HAI-1 monomer in intestinal but not epidermal epithelial cells.

Barndt RB, Lee MJ, Huang N, et al.

Human molecular genetics 2021; (30(19)):1833-1850 doi:10.1093/hmg/ddab150.

Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report.

Cendal I, Szafrańska A, Fuchs T, et al.

Frontiers in pediatrics 2021; (9()):758006 doi:10.3389/fped.2021.758006.

The Na+/H+ Exchanger 3 in the Intestines and the Proximal Tubule of the Kidney: Localization, Physiological Function, and Key Roles in Angiotensin II-Induced Hypertension.

Nwia SM, Li XC, Leite APO, et al.

Frontiers in physiology 2022; (13()):861659 doi:10.3389/fphys.2022.861659.

Further delineation of SLC9A3-related congenital sodium diarrhea.

Bogdanic E, Müller T, Heinz-Erian P, et al.

Molecular genetics & genomic medicine 2022; (10(8)):e2000 doi:10.1002/mgg3.2000.

Congenital sodium diarrhoea caused by rare de novo activating guanylate cyclase mutation.

Bajracharya S, Stich D, Berman J, Biank V

BMJ case reports 2022; (15(12)) doi:10.1136/bcr-2022-251632.

Successful therapy for congenital sodium diarrhea by enteral management: A case report.

Thorvilson DA, Skiba CC, Muzzy JD, et al.

Nutrition (Burbank, Los Angeles County, Calif.) 2023; (114()):112096 doi:10.1016/j.nut.2023.112096.

Congenital Sodium Diarrhea: Antenatal Diagnosis May Prevent Unnecessary Surgery in the Neonate.

Berger DS, Tancioco V, Shrivastava VK

AJP reports 2023; (13(4)):e61-e64 doi:10.1055/s-0043-1776148.

Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel GUCY2C variant.

Scott W, Wong IGY, Cramer J, et al.

American journal of medical genetics. Part A 2024; (194(4)):e63489 doi:10.1002/ajmg.a.63489.

Approach to Congenital Diarrhea and Enteropathies (CODEs).

Kijmassuwan T, Balouch F

Indian journal of pediatrics 2024; (91(6)):598-605 doi:10.1007/s12098-023-04929-7.

De Novo GUCY2C and PRR12 Mutations in a Patient With Chronic Diarrhea, Small Bowel Obstructions, and Developmental Delay.

Abraamyan F, Pecha L, Medici V, Stondell J

ACG case reports journal 2025; (12(12)):e01918 doi:10.14309/crj.0000000000001918.

Secretory Diarrhea Caused by Activating GUCY2C Mutation in a Patient With Atypical Kawasaki Disease: A Rare Case Report.

Mujahed R, Banat MA, Jawabreh M, et al.

Sage open pediatrics 2025; (12()):30502225251403777 doi:10.1177/30502225251403777.

Congenital diarrhea and enteropathies caused by a heterozygous mutation in the GUCY2C gene: a rare case report.

Yuan C, Lyu J, Sun X, et al.

Frontiers in pediatrics 2025; (13()):1649272 doi:10.3389/fped.2025.1649272.

Prenatal Diagnosis of Non-Syndromic Congenital Sodium Diarrhea by Serial Ultrasonography and Whole-Exome Sequencing: A Case Report and Brief Review.

Xiang G, Liu X, Zhang Y, et al.

The journal of obstetrics and gynaecology research 2026; (52(6)):e70306 doi:10.1111/jog.70306.

De novo activating GUCY2C variant with prenatal bowel dilatation, neonatal functional obstruction, and reversible intestinal failure: A case report.

Cantagalli MM, Amato T, Chioccioli S, et al.

Intestinal Failure (New York, N.Y.) 2026; (11()):100376 doi:10.1016/j.intf.2026.100376.

A biochemical difference between HAI-2 variants causing syndromic and non-syndromic Congenital Sodium Diarrhea.

Jensen MJ, Mrackova M, Nonboe AW, et al.

PloS one 2026; (21(9)):e0358119 doi:10.1371/journal.pone.0358119.