Congenital anomalies of the kidneys and urinary tract (CAKUT) are found in 3-6 out of 1.000 of the newborns, or according to some statistics they are represented in 0.5% of all pregnancies. Congenital abnormalities of the kidneys and urinary tract present a family of diseases of various anatomic spectrum, including renal anomalies, and anomalies of the bladder and urethra. The study was retrospective-prospective which means that it included newly diagnosed patients suffering from CAKUT, as well as those patients with already diagnosed and well defined CAKUT on the basis of imaging studies which have been processed according to the protocol for this study.
Nadica Ristoska Bojkovska, Lidvana Spahiu, Aleksandra Janchevska, Zoran S. Gucev and Velibor Tasic
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.