Background: Bardet-Biedl syndrome (BBS) is a multisystem genetic disorder characterized with central obesity, pigmentary retinopathy, polydactyly, mental retardation, and hypogenitalism. Renal abnormalities have been recognized as a cardinal feature of the disease with serious prognostic implication. The aim of this study was to analyze the renal status in children with BBS and to implement appropriate interventions in those with progressive course
Patients and methods: The diagnosis of BBS was established on the basis of criteria proposed by Beales et al. (J Med Genet 1999). Imaging of the kidneys and urinary tract was performed with ultrasound study, Tc99mDMSA scan and a cystographic study. Twenty four hour urine collections were obtained for estimation of proteinuria and creatinine clearance. Blood pressure was monitored at clinical visits or as 24-hour ambulatory monitoring.
Results: There were 4 children (2 males, 2 females). All four children displayed abnormal kidney ultrasound and Tc99mDMSA scan resembling dysplastic kidney(s). Two of them had overt proteinuria (glomerulo-tubular pattern). Three children had normal blood pressure and glomerular filtration rate (GFR): 107, 145 and 95 ml/min/1.73m2, and the fourth had hypertension and 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, GFR and blood pressure should be regularly monitored to slow down progression to terminal renal failure.
If the inline PDF is not rendering correctly, you can download the PDF file here.
1. Sanna-Cherchi S Ravani P Corbani V Parodi S Haupt R Piaggio G et al. Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney Int. 2009; 76: 528-33.
2. Guo D. F Rahmouni K. Molecular basis of the obesity associated with Bardet-Biedl syndrome.Trends Endocrinol Metab. 2011; 22: 286-93.
3. Andrade L. J Andrade R França C. S Bittencourt A. V. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. Obes Rev. 2002; 3: 123-35.
4. Iannello S Bosco P Cavaleri A Camuto M Milazzo P Belfiore F. 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. Ann Endocrinol (Paris). 2008; 69: 463-71.
5. Rooryck C Lacombe D. Bardet-Biedl syndrome. Minerva Endocrinol. 1998; 23: 83-92.
6. Iannello S Fagone S Grasso G Ierna D Meli S Pennisi P et al. A case of familial Bardet-Biedl syndrome (obesity slight mental retardation polydactyly retinitis pigmentosum and renal failure) with insulin- resistant diabetes mellitus]. Pediatr Res. 2004; 55: 908-11.
7. M'hamdi O Ouertani I Chaabouni-Bouhamed H. Update on the genetics of bardet-biedl syndrome. Mol Syndromol. 2014; 5: 51-6.
8. Sheffield V. C. Use of isolated populations in the study of a human obesity syndrome the Bardet-Biedl syndrome. Trends Mol Med. 2004; 10: 106-9.
9. Beales P Elcioglu N Woolf A Parker D Flinter F. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999; 36: 437-446.
10. Imhoff O Marion V Stoetzel C Durand M Holder M Sigaudy S et al. Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol. 2011; 6: 22-9.
11. Billingsley G Vincent A Deveault C Héon E. Mutational analysis of SDCCAG8 in Bardet-Biedl syn drome patients with renal involvement and absent polydactyly. Ophthalmic Genet. 2012; 33: 150-4.
12. Mihai C Marshall J Stoicescu R. Bardet-Biedel syndrome with end -stage kidney disease in a four-yearold Romanian boy: a case report. J Med Case Reports. 2011; 5: 378.
13. Hooda A. K Karan S. C Bishnoi J. S Nandwani A Sinha T. Renal transplant in a child with Bardet- Biedl syndrome: A rare cause of end-stage renal disease. Indian J Nephrol. 2009; 19: 112-4.
14. Valavi E Ansari M. J Ahmadzadeh A. Bardet-biedl syndrome in a child with chronic kidney disease. Saudi J Kidney Dis Transpl. 2009; 20: 454-7.
15. Momtaz H. E Amanati A. Continuous ambulatory peritoneal dialysis for a patient with Bardet-Biedl syndrome. Iran J Kidney Dis. 2008; 2: 237-9.
16. Cherian M. P Al-Sanna'a N. A Ayyat F. M. Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome. J Pediatr Urol. 2008; 4: 313-6.
17. Dervisoglu E Isgoren S Kasgari D Demir H Yilmaz A. Obesity control and low protein diet preserve or even improve renal functions in Bardet-Biedl syndrome: a report of two cases. Med Sci Monit. 2011; 17: CS12-14.