Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity,
polydactyly, brachydactyly, hypogonadism and mental retardation. Renal involvement is frequent and is usually
presented as minor structural or functional defects. However, end stage renal failure is rare. More importantly radial
artery tortusity has not been reported in BBS yet.
Twenty-year-old girl with BBS was admitted to emergency department with complaints of malaise, nausea, seizures
and muscle cramps. Initial evaluation revealed severe hypocalcemia (Ca: 3.6 mg/dl) and uremia. Calcium
replacement therapy was initiated, and she was hospitalized to the endocrinology department. Detailed investigation
revealed end stage renal failure and radial artery tortusity in addition to classical finding of retinopathy with near
blindness, brachydactyly, speech deficiency and glucose intolerance. Etiologic investigations pointed out renal
failure as cause of hypocalcaemia. Fistulization operation was tried twice, but failed. Doppler ultrasonography of
radial artery showed that there was insufficiency in radial artery flow and it had a tortuous appearance. Therefore,
continuous ambulatory peritoneal dialysis (CAPD) was initiated and she tolerated it very well.
Key Words: Bardet-Biedl Syndrome, Renal failure
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