Hülya TAŞKAPAN, Lezzan KESKİN, Tekeş Selda SERBEST, Emin KAYA, İbrahim ŞAHİN

End stage renal failure and radial artery tortusity: Two uncommon manifestations in Bardet-Biedl Syndrome

Bardet-Biedl Sendromu (BBS) retinitis pigmentosa, obezite, polidaktili, brakidaktili, hipogonadizm ve mental retardasyon ile karakterize otozomal resesesif geçiş gösteren bir hastalıktır. Renal tutulum sık görülür ve daha çok hafif yapısal ve fonksiyonel bozukluklar şeklindedir. Ancak son dönem böbrek yetmezliği çok nadir görülür. Daha da önemlisi radial arter tortusitesi bildirilmemiştir. Yirmi yaşındaki BBS'li bayan hasta bulantı, kasılma ve kas krampları ile acil servise başvurdu. Hastanın ilk değerlendirilmesinde ciddi hipokalsemi (Ca: 3.6 mg/dl) ve üremi tespit edildi. Kalsiyum replasman tedavisi başlandı ve hasta Endokrinoloji bölümüne yatırıldı. Yapılan ileri tetkiklerinde retinopati, brakidaktili, konuşma bozukluğu ve glikoz tolerans bozukluğu gibi klasik bulgularının yanında son dönem böbrek yetmezliği ve radial arter tortusitesi mevcuttu. Hastanın sonuçları hipokalseminin böbrek yetmezliğine bağlı olarak geliştiğini işaret etmekte idi.Fistülizasyon operasyonu iki kez yapılmasına rağmen başarısız oldu. Yapılan Doppler ultrasonunda radial arterde yetmezlik ve tortusite saptandı. Bundan dolayı sürekli ambulatuar peritoneal dializ tedavisi başlandı ve hasta tedaviyi iyi tolere etti.

Son dönem böbrek yetmezliği ve radial arter tortusitesi: Barder-Biedl Sendromunun nadir görülen iki bulgusu

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.

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