Bardet-Biedl syndrome: a case report / 中华肾脏病杂志

ABSTRACT

Bardet-Biedl syndrome (BBS) is an autosomal recessive hereditary rare disease with high heterogeneity in clinical phenotypes, which can affect multiple systems, such as six fingers/digits deformity, mental impairment, retinopathy, polycystic kidney, etc, and is easily diagnosed according to a single system disease, resulting in misdiagnosis. The paper reports a case of BBS, diagnosed with "renal cyst, developmental delay, chondrosis, and left foot hexadactylism" at 5 years old, "anemia, renal insufficiency, distal renal tubule poisoning, renal osteodystrophy" at 7 years old. At 10 years old, the patient received hemodialysis treatment for uremia. Cloudy vision appeared in both eyes at 14 years old. Because of the prominent manifestation of kidney damage, the patient was misdiagnosed as "polycystic kidney" for a long time, and other systemic damages were ignored. The result of gene sequencing showed that chromosome 16 NM_031885.5 exon17 had one homozygous nonsense mutation. Therefore, the patient was accurately diagnosed as BBS. This paper is the first report of BBS in Li nationality in China. The relevant literature of BBS were reviewed to strengthen clinicians' understanding of the disease and improve patients' prognosis.