Results 161 to 170 of about 4,587 (195)
Some of the next articles are maybe not open access.
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
openaire +2 more sources
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
openaire +2 more sources
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
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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.
openaire +1 more source
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