Polskie Archiwum Medycyny Wewnętrznej
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Nephropathic cystinosis (NC) is a rare, autosomal recessive disorder leading to lysosomal accumulation of cystine. It is caused by mutations in the CTNS gene encoding a cystine cotransporter cystinosin. The infantile (INC) and juvenile (JNC) forms are distinguished. The former, responsible for 95% of cases, is characterized by development of renal Fanconi syndrome, end-stage kidney disease (ESKD), and extrarenal complications. A therapy with cysteamine significantly improves outcomes. There are limited data on NC in the Central Eastern European countries. ⋯ The prevalence of NC in Poland is much lower than in the Western countries and its molecular background appears to be different. The unfavorable course in the majority of INC patients was caused by a limited access to the cysteamine treatment.
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Pol. Arch. Med. Wewn. · Nov 2022
Relative superiority of the Lund-Malmö revised equation for glomerular filtration rate estimation in patients with end-stage renal disease not on dialysis among 23 equations.
The glomerular filtration rate (GFR) is an important indicator of renal function, and its precise measurement is essential for guiding clinical management. However, studies evaluating the performance of GFRestimation equations in undialyzed patients with end‑stage renal disease (ESRD) remain scarce. ⋯ Based on comparison of 23 equations, we recommend using the LMR equation, despite its large deviations, to estimate GFR in undialyzed patients with ESRD.