Noel Edwards, Sarah J Rice, Shreya Raman, Ann Marie Hynes, Shalabh Srivastava, Iain Moore, Mohamed Al-Hamed, Yaobo Xu, Mauro Santibanez-Koref, David T Thwaites, Daniel P Gale, John A Sayer
End-stage renal disease (ESRD) presenting in a familial autosomal dominant pattern points to an underlying monogenic cause. Nail-patella syndrome (NPS) is an autosomal dominant disorder that may lead to ESRD caused by mutations in the transcription factor LMX1B. Renal-limited forms of this disease, termed nail-patella-like renal disease (NPLRD), and LMX1B nephropathy have recently been described. We report a large family, from the North East of England, with seven affected members with varying phenotypes of renal disease, ranging from ESRD at 28 years of age to microscopic haematuria and proteinuria and relatively preserved renal function...
February 2015: Clinical Kidney Journal