End Stage Renal Failure and Radial Artery Tortusity: Two Uncommon Manifestations in Bardet-Biedl Syndrome

Abstract

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

Keywords

• Bardet-Biedl Syndrome, Renal failure

Son Dönem Böbrek Yetmezliği ve Radial Arter Tortusitesi: Bardet-Biedl Sendromunun Nadir Görülen İki Bulgusu

Öz

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. Anahtar kelimeler: Bardet-Biedl Sendromu, Böbrek yetmezliği

Anahtar Kelimeler

• Bardet-Biedl Sendromu, Böbrek yetmezliği

References

1. P L Beales, N Elcioglu, A S Woolf, D Parker, F A Flinter. New criteria for improved diagnosis of Bardet Biedl Syndrome: results of a population survey. J Med Genet 1999; 36: 437-46.
2. S. Iannello, P. Bosco, A. Cavaleri, M. Camuto, P. Milazzo, F. Belfiore. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Obesity reviews 2002; 3: 123-35.
3. Nicholas Katsanis, James R. Lupski and Philip L. Beales. Exploring the molecular basis of Bardet Biedl Syndrome. Human Moleculer Genetics 2001;10(20) 2293-9
4. Bardet G. Sur un syndrome d’obesite congenitale evec poly-dactilie et retinite pigmentaire ( contribution a I’ etude des formes cliniques de I2 obesite hypophysaire) thesis, University of Paris : 1920.
5. Biedl A. Ein Geschwisterpaar mit adipose-genitaler dystrophie Dtsch Med Wochenschr 1922;48 :1630.
6. Esra Baskın, Ferhun Balkancı, Saruhan Çekirge, Cumhur Şener , Ümit Saatçi. Renal vascular abnormalities in Bardet-Biedl syndrome. Pediatr Nephrol 1999 ; 13: 787-9.
7. Harnett JD, Green JS, Cramer Bcet al.The spectrum of renal disease in Laurence Moon Bardet Biedl Syndrome. N England J Med 1988; 319:615- 8.
8. Linne T, Wihstad I, Zetterstrom R. Renal involvement in LMBBS. Acta Paediatr 1986; 75:240-4.

9. Kaynar K, Ulusoy S, Gul S, Ukinc K . Renal failure due to Bardet-Biedl syndrome. A case report. Med Princ Pract 2004;13(6):380-2.
10. Roussel B, Leroux B, Gaillard D, Fandre M [Laurence-Moon-Bardet-Biedl syndrome, chronic diffuse tubulo-interstitial nephritis and liver involvement] Helv Paediatr Acta 1985; 40 (5):405-13