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30 May 2022 : Case report  Saudi Arabia

[In Press] 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 Kotbi12EF

DOI: 10.12659/AJCR.936715

Am J Case Rep In Press; DOI: 10.12659/AJCR.936715  

Available online: 2022-05-30, In Press, Corrected Proof

Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule


Congenital chloride diarrhea (CCD) is an autosomal recessive disease that is usually diagnosed in early childhood. Mutations in the SLC26A3 gene have been attributed to the primary etiology of disease development. Patients with CCD usually present with electrolyte disturbances, metabolic alkalosis, and chronic diarrhea. Early diagnosis is essential to prevent long-term complications that often require genetic testing. Bartter syndrome is another congenital disorder that has clinical features similar to CCD, which might cause a delay in diagnosis in a few patients.
We describe the case of a 28-year-old man who was misdiagnosed as having Bartter syndrome when he was 5 months old based on the clinical features of hypokalemia, metabolic alkalosis, and a family history of Bartter syndrome. He had multiple admissions with diarrhea and was diagnosed with ulcerative colitis. Unfortunately, the course was complicated by renal failure, and the patient underwent a kidney transplant. Persistent metabolic alkalosis with diarrhea after transplantation was unusual in Bartter syndrome. Therefore, his primary diagnosis was challenged and suspicion of CCD was raised, which was confirmed by genetic testing.
CCD is a rare congenital disorder that requires high clinical suspicion and often a genetic test to confirm diagnosis. Here, we report a patient who was misdiagnosed as having Bartter syndrome until early adulthood owing to several misleading factors. We hope by reporting this case it will raise awareness about CCD in high-prevalence areas and the importance of early diagnosis to prevent serious complications.

Keywords: Bartter Syndrome; Kidney Transplantation; Congenital Chloride Diarrhea; SLC26A3 Protein, Human


16 June 2022 : Case report  Ecuador

Multidrug-Resistant Klebsiella pneumoniae in a Patient with SARS-Cov-2 Pneumonia in an Intensive Care Unit ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.936498  

13 June 2022 : Case report  Japan

Stenotrophomonas maltophilia Infection Associated with COVID-19: A Case Series and Literature Review

Am J Case Rep In Press; DOI: 10.12659/AJCR.936889  

13 June 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

Am J Case Rep In Press; DOI: 10.12659/AJCR.936128  

03 June 2022 : Case report  Japan

Clinical Outcomes of Sotrovimab Treatment in 10 High-Risk Patients with Mild COVID-19: A Case Series

Am J Case Rep In Press; DOI: 10.12659/AJCR.936832  

In Press

24 Jun 2022 : Case report  USA

A 24-Year-Old Man Presenting with Lung Metastases from a Primary Retroperitoneal Extragonadal Choriocarcinoma

Am J Case Rep In Press; DOI: 10.12659/AJCR.936288  

24 Jun 2022 : Case report  Romania

Odontogenic Keratocyst: The Dos and Don’ts in a Clinical Case Scenario

Am J Case Rep In Press; DOI: 10.12659/AJCR.936641  

24 Jun 2022 : Case report  Saudi Arabia

Management of Patients with Alagille Syndrome Undergoing Living Donor Liver Transplantation: A Report of 2 ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.936513  

22 Jun 2022 : Case report  USA

A Case of Lymphomatoid Granulomatosis in a Lymph Node with Unique Clinical and Histopathologic Features

Am J Case Rep In Press; DOI: 10.12659/AJCR.936862  

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