Results 151 to 160 of about 4,587 (195)
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Familial juvenile nephronophthisis
Acta Radiologica, 1998Familial juvenile nephronophthisis (NPH) is an autosomal recessive interstitial nephritis leading to terminal renal failure around puberty. Associations with extrarenal symptoms have been reported, mainly with Leber amaurosis (termed Senior-Løken syndrome).
S Ala-Mello +2 more
exaly +3 more sources
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis
Kidney International, 2009 Nephronophthisis is an autosomal recessive chronic tubulointerstitial disease that progresses to end-stage renal disease (ESRD) in about 10% of cases during infancy.
Vincent Morinière +2 more
exaly +2 more sources
Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies [PDF]
Journal of Proteomics, 2019 Nephronophthisis is one of the leading genetic causes of end-stage renal disease in childhood. Early diagnostics and prognostics for nephronophthisis are currently limited.
Marijn F Stokman +2 more
exaly +2 more sources
American Journal of Human Genetics, 2000 SummaryNephronophthisis, an autosomal-recessive cystic kidney disease, is the most frequent monogenic cause for renal failure in childhood. Infantile and juvenile forms of nephronophthisis are known to originate from separate gene loci.
Heymut Omran +2 more
exaly +2 more sources
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy [PDF]
Pediatric Nephrology, 2018 Background: Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent.
Marijn F Stokman +2 more
exaly +2 more sources
The American Journal of Medicine, 1980
Twenty-one patients with nephronophthisis are described with a follow-up of one to 16 years (mean 9.3 years). In 10 patients, there was a familial incidence. Autosomal recessive appears the likely mode of inheritance with a 20 per cent incidence noted (seven of 35) following correction for the bias of ascertainment by removing the probands.
B T, Steele, D S, Lirenman, C W, Beattie
+6 more sources
Twenty-one patients with nephronophthisis are described with a follow-up of one to 16 years (mean 9.3 years). In 10 patients, there was a familial incidence. Autosomal recessive appears the likely mode of inheritance with a 20 per cent incidence noted (seven of 35) following correction for the bias of ascertainment by removing the probands.
B T, Steele, D S, Lirenman, C W, Beattie
+6 more sources
Abnormal integrin receptor expression in two cases of familial nephronophthisis
Histopathology, 1995 Familial nephronophthisis is one of the inherited human cystic kidney diseases and is characterized by progressive renal failure. We have investigated abnormalities of cell-matrix interactions using immunocytochemistry and electron microscopy in three ...
M.A. RAHILLY +3 more
exaly +2 more sources
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis [PDF]
Kidney International Reports, 2022 Kidney survival; Nephronophthisis; Prognostic factorsSupervivencia renal; Nefronoptisis; Factores pronósticosSupervivència renal; Nefronoftisi; Factors pronòsticsIntroduction Nephronophthisis (NPH) comprises a group of rare disorders accounting for up ...
Joachim Gerss +2 more
exaly +2 more sources