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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

Fig. 3

Analysis of renal function. a eGFR, calculated according to the CKD-EPI formula, in our BBS patients. The most severe renal dysfunction occurred in a patient carrying biallelic BBS10 mutations. b Relative eGFR decline in 3 years. eGFR was estimated at baseline (T0) and after 3 years (TIII). Relative eGFR change (ΔGFR) during 3 years is expressed as percentage (%) of the T0. c Urine albumin-to-creatinine ratio (ACR). Two of three mutated patients showed ACR above 30 mg/g; the other patient showed normal ACR. d Maximal urine concentrating ability. Urine osmolality was measured in the second morning urine void, after overnight fasting and water restriction

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BMC Medical Genetics

ISSN: 1471-2350

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