Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

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Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood Stanislas Faguer, Stéphane Decramer, Nicolas Chassaing, Christine Bellanné-Chantelot, Patrick Calvas, Sandrine Beaufils, Lucie Bessenay, Jean-Philippe Lengelé, Karine Dahan, Pierre Ronco, Olivier Devuyst, Dominique Chauveau Kidney International Volume 80, Issue 7, Pages 768-776 (October 2011) DOI: 10.1038/ki.2011.225 Copyright © 2011 International Society of Nephrology Terms and Conditions

Figure 1 Pedigrees of 20 families with HNF1B mutation. Filled quarters denote organ involvement. #These individuals had no molecular analysis, but their genotype was deduced from that of affected siblings (see text for details). Kidney International 2011 80, 768-776DOI: (10.1038/ki.2011.225) Copyright © 2011 International Society of Nephrology Terms and Conditions

Figure 2 Kidney length at last follow-up in 24 adult patients with HNF1B mutation. Kidney International 2011 80, 768-776DOI: (10.1038/ki.2011.225) Copyright © 2011 International Society of Nephrology Terms and Conditions

Figure 3 Serial determination of serum creatinine in 27 adult patients with HNF1B mutation. Dark and white squares represent patients with point mutation and whole-gene deletion, respectively. ESRD, end-stage renal disease; KTx, kidney transplantation. Kidney International 2011 80, 768-776DOI: (10.1038/ki.2011.225) Copyright © 2011 International Society of Nephrology Terms and Conditions

Figure 4 The spectrum of abdominal imaging findings in HNF1B patients. (a, b) Abdominal computed tomography (CT) scan: bilateral small kidneys with nephrolithiasis (a, patient F19.1); solitary left kidney with few cortical cysts (b, patient F4.1). (c, d) Abdominal magnetic resonance imaging (MRI): left solitary kidney without cyst (c, patient F17.1); multicystic kidneys mimicking autosomal-dominant polycystic kidney disease (d, patient F3.2). (e, f) Abdominal CT scan: hypoplasia of pancreas tail (e, patient F1.1); calcification of pancreas head (f, patient F20.1). (g) Abdominal MRI (patient F20.1, chronic cholestasis): normal biliary tree. (h) Pelvic CT scan: septate uterus (star, patient F19.1). Kidney International 2011 80, 768-776DOI: (10.1038/ki.2011.225) Copyright © 2011 International Society of Nephrology Terms and Conditions