05 July 2022
: Case report 
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 Sadagah123EF*, Ahmad Zaid Makeen12ABEF, Eman Talal Kotbi12EFDOI: 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 |