Turkish Journal of Nephrology
Case Report

A Rare Case of Chronic Renal Failure: Laurence Moon Bardet Biedl Syndrome

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Dicle Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı Nefroloji Bilim Dalı, Diyarbakır, Türkiye

2.

Dicle Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Diyarbakır, Türkiye

Turkish J Nephrol 2012; 21: 189-192
DOI: 10.5262/tndt.2012.1002.16
Read: 1909 Downloads: 856 Published: 11 February 2019

The Laurence Moon Bardet Biedl syndrome (LMBBS), is a rare autosomal recessive disorder characterized by obesity, mental retardation, polydactly, hypogonadism and retinitis pigmentosa. Kidney failure, diabetes mellitus, insulin resistance, hypertension and liver fibrosis which are not included among the criteria for the diagnosis of the disease can also be seen in these patients. End stage renal disease that develops as a result of progressive deterioration in renal function is the most frequent cause of death. In this case report, a 17-year-old male patient with LMBBS who had a neck abscess, high urea- creatinine levels and metabolic acidosis is reported.

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EISSN 2667-4440