Results 171 to 180 of about 6,344 (210)
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Familial juvenile nephronophthisis
Journal of Molecular Medicine, 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).
M, Konrad +5 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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Nephronophthisis With Massive Proteinuria
American Journal of Kidney Diseases, 1983A 23-year-old male whose uncle died of nephronophthisis, and whose pathology is also discussed, presented with 5 g of protein in a 24-hour urine collection. Nephrogenic diabetes insipidus and salt wasting were present in addition to azotemia. Characterization of the proteinuria, including elevated alpha globulins by electrophoresis and markedly ...
A R, Eiser +4 more
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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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La Revue du praticien, 1997
Nephronophthisis is an autosomal recessive tubulointerstitial nephropathy leading to end-stage renal failure during adolescence or early adulthood. Initial symptoms of pitressoresistant polyuria and polydipsia start around 3 years of age, increase over the following years and are often responsible for growth retardation.
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Nephronophthisis is an autosomal recessive tubulointerstitial nephropathy leading to end-stage renal failure during adolescence or early adulthood. Initial symptoms of pitressoresistant polyuria and polydipsia start around 3 years of age, increase over the following years and are often responsible for growth retardation.
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The International journal of pediatric nephrology, 1988
Juvenile nephronophthisis is a common cause of end stage renal failure in children and adolescents. The early occurrence with rapid progression to advanced renal failure has not previously been described. In this report we present three babies in whom failure to thrive, dehydration and a renal concentrating defect presented soon after birth; they were ...
E, Bodaghi, M T, Honarmand, M, Ahmadi
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Juvenile nephronophthisis is a common cause of end stage renal failure in children and adolescents. The early occurrence with rapid progression to advanced renal failure has not previously been described. In this report we present three babies in whom failure to thrive, dehydration and a renal concentrating defect presented soon after birth; they were ...
E, Bodaghi, M T, Honarmand, M, Ahmadi
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Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis
Kidney International Reports, 2021Takuya Fujimaru +2 more
exaly
Nephroangiography in Nephronophthisis
Acta Radiologica. Diagnosis, 1973P, Junghagen, B, Lindqvist
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Familial Juvenile Nephronophthisis
Acta Paediatrica, 1962, von SYDOW, S, RANSTROM
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