PP81. RENAL DYSPLASIA IN BARDET-BIEDL SYNDROME
ZEYNEL S, Gucev Z, Laban Guceva N, Jancevska A, Korneti P, Ristoska Bojkovska N, Tasic V Medical School, University St.Cyrilus and Methodius Skopje, Department of Biochemistry; Clinic for Children's Disease and Department of Endocrinology, Clinical Center, Skopje, Macedonia e-mail: sead_mmsa@yahoo.com
*Corresponding Author:
page: 83

Abstract

Background: Bardet-Biedl syndrome (BBS) is a multisystem genetic disorder characterizewd with central obesity, pigmentary retinopathy, polydactyly, mental retardation, and hypogenitalism. Recently, renal abnormalities have been recognized as a cardinal feature of the disease with serious prognostic implication. BBS is known to map at least to six loci [11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6)]. The inheritance is complex, autosomal recessive, and at least three mutations at two loci are necessary to manifest the disease phenotype. Pat ients and methods : In this work we analyzed renal phenotypes in our BBS patients. The diagnosis of BBS was established on the basis of abovementioned criteria. Imaging of the kidneys and urinary tract was performed with ultrasound study, Tc99mDMSA scan and cystographic study. Twenty four hour urine collections were obtained for estimation of proteinuria and creatinine clearance. Results: There were 3 children (2 males, 1 female) aged 6, 13 and 14 years. All three children displayed abnormal kidney ultrasound and DMSA scan resembling dysplastic kidneys. Two of them had overt proteinuria (tubular pattern). Two children had normal renal function 87 and 95 ml/min/1.73m2, and the third had progressive worsening of the GFR at 65 ml/min/1.73m2. Conclusion: children with BBS should undergo imaging studies of the kidneys and urinary tract at initial work up; in those with renal dysplasia proteinuria and GFR should be regularly monitored to slow down progression to terminal renal failure.



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