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

05 July 2022: Articles

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 number	Author	Study design	Age at diagnosis	Clinical features	Genetic mutation
1	Darrow DC (1945)	Case report	2 years, 11 months	Watery diarrhea	Not investigated
8	P Höglund, et al (1998)	Cross sectional	Variable	Profuse diarrhea with high chloride content	I675-676ins G187X
11	Kamal N, et al (2019)	Retrospective	Fetal-7 months One patient 12 years	IUGR, voluminous urine like diarrhea, jaundice, intestinal obstruction, renal involvement	c.559G>T (p.G187X)
12	Saneian H, et al (2013)	Case report	15 months	Failure to thrive and poor feeding	Not investigated
16	Matsunoshita N, et al (2018)	Retrospective	6 months 7 years	Watery diarrhea, failure to thrive	c.354delC, and c.1008insT c.877G >A, p.(Glu293Lys), and c.1008insT
17	Ka-Ho Lok, et al (2007)	Case report	22 years	Generalized fatigue, diarrhea	Not investigated
22	EGRITAS O, et al (2011)	Case report	20 months	Premature birth, dehydration	c.559G>T (p.G187X)
23	Al-Abbad A, et al (1995)	Retrospective	2–36 months	Diarrhea, maternal polyhydramnios, failure to thrive	Not investigated
29	Konishi K, et al (2020)	Case report	Day 2 after delivery	IUGR, watery diarrhea	c.382G>A, p.G128S and c.2063-1g>t
30	David E, et al (2019)	Case report	1 year	Ileus, GI bleeding, diarrhea	c.1295delT and c.2024_2026dupTCA
31	Hosnut F, et al (2010)	Case report	8 months	Watery diarrhea, failure to thrive, abdominal distention	c.2025_2026insATC