Results 221 to 230 of about 8,333 (256)
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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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Long-Term Outcomes of Kidney Transplant Recipients With Juvenile Nephronophthisis.
Experimental and Clinical Transplantation, 2022OBJECTIVES Nephronophthisis is the most common genetic cause of kidney failure in childhood. Treatment for nephronophthisis is symptomatic, and kidney transplant is a good treatment option when kidney failure has developed.
B. Avci +7 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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Journal of Pediatric Genetics
Nephronophthisis is a group of autosomal recessive kidney diseases characterized by chronic tubulointerstitial abnormalities leading to kidney failure. The incidence of nephronophthisis varies globally, and its genetic heterogeneity presents significant ...
Ourayna Batta +6 more
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Nephronophthisis is a group of autosomal recessive kidney diseases characterized by chronic tubulointerstitial abnormalities leading to kidney failure. The incidence of nephronophthisis varies globally, and its genetic heterogeneity presents significant ...
Ourayna Batta +6 more
semanticscholar +1 more source
American Journal of Medical Genetics. Part A
Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant genetic and clinical heterogeneity of these conditions.
E. Gillesse +6 more
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Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant genetic and clinical heterogeneity of these conditions.
E. Gillesse +6 more
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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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Nephronophthisis: a pathological and genetic perspective
Pediatric nephrology (Berlin, West), 2023M. T. Wolf +3 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.
openaire +1 more source