WebAbstract Background: Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin gene (UMOD) and leading to gout, tubulointerstitial nephropathy and end-stage renal disease. Case reports and results: A Latvian family suffering from FJHN is described. WebThe terms 'familial juvenile hyperuricemic nephropathy' (FJHN, HNFJ), 'medullary cystic kidney disease' (MCKD), 'glomerulocystic kidney disease' (GCKD), 'tubulointerstitial nephritis,' and 'hereditary interstitial kidney disease,' among others, have all been used to describe this phenotype.
Mutations of the UMOD gene are responsible for medullary cystic …
WebThe UMOD gene provides instructions for making a protein called uromodulin. This protein is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. Researchers have suggested that uromodulin may protect ... WebMar 29, 2013 · Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease, ... The treatment combined low/purines diet with allopurinol 10 mg/kg of body weight is useful to maintain GRF for several years in CK stage 4. We also concluded that it is necessary to … gp reinfeld gmbh \\u0026 co. kg
Uric Acid Nephropathy - an overview ScienceDirect Topics
WebAug 14, 2015 · Curta, inscreva-se e ative o sininho para que possamos estar trazendo novidades no canal! WebTreatment is supportive until kidney transplantation is required. View chapter Purchase book. Read full chapter. ... (FJHN) are both autosomal dominant renal diseases … WebInaugural Workforce Innovation Conference . MHA offers this conference for the first time as we bring together human resource (HR) professionals, nursing, and other hospital and health system leaders from various specialties to share innovative strategies and resources that are available. gp registrations glasgow