Results 121 to 130 of about 3,874 (165)
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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).
Juha E Jääskeläinen, S Ala-Mello
exaly +3 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
Journal of Pediatric Genetics, 2013
Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal biopsy.
Shalabh, Srivastava, John A, Sayer
openaire +3 more sources
Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal biopsy.
Shalabh, Srivastava, John A, Sayer
openaire +3 more sources
Current Opinion in Genetics & Development, 2005
There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evident that the disease is characterized by both clinical and genetic heterogeneity. Within the three different clinical forms there is a large spectrum of phenotypes, which have been associated, to date, with five gene ...
Sophie, Saunier +2 more
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There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evident that the disease is characterized by both clinical and genetic heterogeneity. Within the three different clinical forms there is a large spectrum of phenotypes, which have been associated, to date, with five gene ...
Sophie, Saunier +2 more
openaire +2 more sources
Irish Journal of Medical Science, 1981
The clinical histories and laboratory investigations of 5 patients with juvenile nephronophthisis from 3 kindreds are described. Special emphasis is made on renal function replacement, especially transplantation, in which the original disease has not recurred.
J F, Walker +4 more
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The clinical histories and laboratory investigations of 5 patients with juvenile nephronophthisis from 3 kindreds are described. Special emphasis is made on renal function replacement, especially transplantation, in which the original disease has not recurred.
J F, Walker +4 more
openaire +2 more sources
2018
Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a ...
John A. Sayer, Roslyn J. Simms
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Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a ...
John A. Sayer, Roslyn J. Simms
openaire +1 more source
Nephronophthisis in two siblings
Clinical and Experimental Nephrology, 2005We describe here two sisters with nephronophthisis, which was not detected until the development of endstage renal failure. Twenty- and 15-year-old female siblings were admitted to our hospital for further examination of renal dysfunction. No urinalysis abnormalities had been found in yearly health checks in either patient.
Mamiko, Ashizawa +9 more
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Familial Juvenile Nephronophthisis
Acta Paediatrica, 1958SummaryIn two families with five and three children respectively, two of the children in each family died of renal diseases with a very similar course. They fell ill manifesting fatigue, anemia, slowly increasing polyuria, polydipsia and, gradually, isosthenuria.
G, HACKZELL, C, LUNDMARK
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