Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report
Sign Up to like & getrecommendations! Published in 2020 at "Renal Failure"
DOI: 10.1080/0886022x.2020.1818578
Abstract: Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the α-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria or low-grade proteinuria,… read more here.
Keywords: sudden onset; onset nephrotic; case report; fabry ... See more keywords
Child with new onset nephrotic syndrome as the sole manifestation of SARS‐CoV‐2 infection
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.15835
Abstract: As the COVID-19 pandemic is moving on and additional data are accumulating, SARS-CoV-2 seems to be associated with acute kidney injury (AKI) in severely infected and critically ill adults among other manifestations. Kidney involvement has… read more here.
Keywords: onset nephrotic; sars cov; new onset; nephrotic syndrome ... See more keywords
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
Sign Up to like & getrecommendations! Published in 2018 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0961-9
Abstract: BackgroundGalloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies. Given its clinical heterogeneity, GAMOS is believed to be… read more here.
Keywords: early onset; clinical phenotype; mowat syndrome; onset nephrotic ... See more keywords