Clinical case reports · 2026
Bardet-Biedl Syndrome Presenting With Acute Kidney Injury Revealing Previously Undiagnosed Advanced Chronic Kidney Disease in a Young Adult: A Case Report.
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Abbas Aqeel, Amjad Nouman, Mufti Amna Faheem, Waqas Muhammad, Iqbal Minahil, Ali Hamza, Habib Amir, Samadi Yahya, Haider Muhammad Usman
Аннотация
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.