Results 131 to 140 of about 3,874 (165)
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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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Virchows Archiv A Pathological Anatomy and Histology, 1982
The clinical and morphological findings are described in 27 children with nephronophthisis. Seventeen children were considered as sporadic cases. In 10 familial cases the presumed mode of inheritance was autosomal recessive. The clinical picture was rather uniform: polyuria-polydipsia, hyposthenuria, anemia, growth retardation, and azotemia with ...
R, Waldherr +4 more
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The clinical and morphological findings are described in 27 children with nephronophthisis. Seventeen children were considered as sporadic cases. In 10 familial cases the presumed mode of inheritance was autosomal recessive. The clinical picture was rather uniform: polyuria-polydipsia, hyposthenuria, anemia, growth retardation, and azotemia with ...
R, Waldherr +4 more
openaire +2 more sources
Nephroangiography in Nephronophthisis
Acta Radiologica. Diagnosis, 1973P, Junghagen, B, Lindqvist
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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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Nephronophthisis with bronchiectasis.
Child nephrology and urology, 1991A boy with nephronophthisis and bronchiectasis, a previously unrecognised association is described. Electron-microscopic examination of a renal biopsy from an asymptomatic sibling revealed marked thickening and lamination of the tubular basement membranes.
A, Bagga +5 more
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The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis
International Journal of Molecular Sciences, 2021Kai Schmidt-Ott +2 more
exaly
Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis
Kidney International Reports, 2021Shintaro Mandai +2 more
exaly
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
Kidney International Reports, 2022Detlef Bockenhauer +2 more
exaly