Diarrhea and Hypokalemic Rhabdomyolysis Due to Apoptotic Colitis as the Initial Manifestation of Common-Variable Immunodeficiency in an Adolescent

Autor:	Charu Subramony, Michael J. Nowicki, David Green, Hua Liu, Nina Dave
Rok vydání:	2014
Předmět:	medicine.diagnostic_test business.industry Common variable immunodeficiency Colonoscopy Disease medicine.disease Hypokalemia Diarrhea Apoptosis Immunology medicine medicine.symptom Colitis business Rhabdomyolysis
Zdroj:	Open Journal of Pediatrics. :129-134
ISSN:	2160-8776 2160-8741
Popis:	We present the case of an adolescent who presented with rhabdomyolysis due to severe hypokalemia arising from chronic diarrhea. Initial evaluation for celiac disease, known to present in this manner, was negative. Further evaluation with colonoscopy showed a normal appearing colon but biopsies showed a significant number of apoptotic cells in the mucosal crypts supporting a diagnosis of apoptotic colitis. Investigation into the cause of apoptotic colitis resulted in a diagnosis of common variable immune deficiency due to a defect in the inducible T-cell costimulator (ICOS) gene. Physicians should be aware of this uncommon condition and the importance of mucosal biopsy despite the presence of normal appearing mucosa.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::6f727952b111808f12c4694275d3e303 https://doi.org/10.4236/ojped.2014.42018 Zobrazit plný text záznamu