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Hypertension and nephrology

DECEMBER 10, 2018

[PAX2: lotium et visus sine pace]

VIOLETTA Antal, KERTI Andrea, JÁVORSZKY Eszter, MÁTTYUS István, REUSZ György, SZABÓ Attila, VÁRKONYI Ildikó, MAKA Erika, TORY Kálmán

[The autosomal dominant papillorenal syndrome results from primarily de novo mutations of PAX2. It encodes a transcription factor expressed in the kidney, urinary tract, nervous system, eye and the ear. Its haploinsufficiency causes primarily hypoplastic and hyperreflective kidney, or other forms of CAKUT. The clinical appearance may be dominated by nephrotic-range proteinuria with focal segmental glomerulosclerosis. The renal survival rate is highly variable: most of the recognized cases lead to ESRD during the first four decades of life. PAX2 mutations cause typical optic papillary alterations, most frequently papillary dysplasia. In contrast to the name of the syndrome, one fourth of the affected patients do not develop ocular involvement. Hearing impairment is associated in less than 10% of the patients. The affected members of the five families that we identified with PAX2 loss-of-function mutations, developed end-stage renal disease during the 2-4. decades of life.]