Hypertension and nephrology

[PAX2: lotium et visus sine pace]

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

DECEMBER 10, 2018

Hypertension and nephrology - 2018;22(06)

[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.]

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[Background: Arterial stiffness has a prognostic role in chronic cardiovascular diseases. Pulse wave velocity (PWV) determined by the carotid-femoral pulse detection is accepted as a gold standard method. Further diagnostic procedures are in use to assess the arterial stiffness including the finger photoplethysmography. The prognostic role of this method is limited in chronic renal diseases. The goal of our investigation was to determine the prognostic significance of the stiffness index (SIDVP) measured by the photoplethysmographic method in IgA nephropathy. Patients and methods: One hundred and three histologically proved IgA nephropathy patients with chronic kidney disease stage 1-4 were investigated (67 male, 36 female, 45 ± 11 years) and followed for an average 65 (6-107) months. The stiffness index was determined by the volume alteration of the digital artery during the cardiac cycle (Pulse Trace system, Micro Medical, Gilingham, Kent, UK). The primary combined end point was total mortality, major cardiovascular events (stroke, myocardial infarction or cardiovascular procedure, for example revascularisation) plus achieving end stage renal disease. The secondary end points were cardiovascular and renal end points alone. Results: The patients with increased stiffness index (> 10 m/s) had significantly more combined primary end point events (10/60 vs. 19/43, P = 0.015). In case of the secondary end points the renal end points were significantly more frequent in patients with higher stiffness index. Stiffness index has also proved to be an independent predictor on survival from other cardiovascular risk factors (age, hypertension, diabetes, obesity, lipid disturbances and decrease of renal function) using the Cox regression model in IgA nephropathy. Every 1 m/s increase in stiffness index resulted a 17% gain in the occurrence of the combined primary end point. Conclusions: Stiffness index determined by finger photoplethysmography is an eligible parameter to assess the prognosis in IgA nephropathy. Increased stiffness index in IgA nephropathy seems to be a good prognostic tool for identification of higher risk patients.]

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