Bardet-Biedl Syndrome Presenting With Acute Kidney Injury Revealing Previously Undiagnosed Advanced Chronic Kidney Disease in a Young Adult: A Case Report.

Authors

Aqeel Abbas, Nouman Amjad, Amna Faheem Mufti, Muhammad Waqas, Minahil Iqbal, Hamza Ali, Amir Habib, Yahya Samadi, Muhammad Usman Haider

Published in

Clinical case reports. Volume 14. Issue 10. Pages e73672. Epub Oct 02, 2026.

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, rod-cone dystrophy, polydactyly, developmental delay, renal dysfunction, and genitourinary abnormalities. We report the case of a 27-year-old female with previously undiagnosed BBS who presented with acute kidney injury precipitated by acute gastroenteritis and was subsequently found to have advanced chronic kidney disease. This case highlights how chronic kidney disease in BBS may remain unrecognized until adulthood in resource-limited settings, emphasizing the importance of early diagnosis, regular renal surveillance, and multidisciplinary care to prevent irreversible renal damage.

PMID:
42829557
Bibliographic data and abstract were imported from PubMed on 04 Oct 2026.

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