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05 July 2022: Articles

Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review

Challenging differential diagnosis, Unusual setting of medical care, Rare disease

Laila Fahad Sadagah E* , Ahmad Zaid Makeen A , Eman Talal Kotbi E

DOI: 10.12659/AJCR.936715

Am J Case Rep 2022; 23:e936715

Table 4. Summary of the literature review findings of similar cases of congenital chloride diarrhea.

Reference numberAuthorStudy designAge at diagnosisClinical featuresGenetic mutation
1Darrow DC (1945)Case report2 years, 11 monthsWatery diarrheaNot investigated
8P Höglund, et al (1998)Cross sectionalVariableProfuse diarrhea with high chloride contentI675-676ins G187X
11Kamal N, et al (2019)RetrospectiveFetal-7 months One patient 12 yearsIUGR, voluminous urine like diarrhea, jaundice, intestinal obstruction, renal involvementc.559G>T (p.G187X)
12Saneian H, et al (2013)Case report15 monthsFailure to thrive and poor feedingNot investigated
16Matsunoshita N, et al (2018)Retrospective6 months 7 yearsWatery diarrhea, failure to thrivec.354delC, and c.1008insT c.877G >A, p.(Glu293Lys), and c.1008insT
17Ka-Ho Lok, et al (2007)Case report22 yearsGeneralized fatigue, diarrheaNot investigated
22EGRITAS O, et al (2011)Case report20 monthsPremature birth, dehydrationc.559G>T (p.G187X)
23Al-Abbad A, et al (1995)Retrospective2–36 monthsDiarrhea, maternal polyhydramnios, failure to thriveNot investigated
29Konishi K, et al (2020)Case reportDay 2 after deliveryIUGR, watery diarrheac.382G>A, p.G128S and c.2063-1g>t
30David E, et al (2019)Case report1 yearIleus, GI bleeding, diarrheac.1295delT and c.2024_2026dupTCA
31Hosnut F, et al (2010)Case report8 monthsWatery diarrhea, failure to thrive, abdominal distentionc.2025_2026insATC

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923