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Toplam kayıt 31, listelenen: 1-10
Genetic Screening In Adolescents With Steroid-Resistant Nephrotic Syndrome
(Elsevier Science Inc, 2013)
Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent ...
Genetic Basis Of Cystinosis In Turkish Patients: A Single-Center Experience
(Springer, 2012)
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Cystinosis was diagnosed at age 1 month ...
Circulating Supar In Two Cohorts Of Primary Fsgs
(Amer Soc Nephrology, 2012)
Overexpression of soluble urokinase receptor (suPAR) causes pathology in animal models similar to primary FSGS, and one recent study demonstrated elevated levels of serum suPAR in patients with the disease. Here, we analyzed ...
Coq6 Mutations In Human Patients Produce Nephrotic Syndrome With Sensorineural Deafness
(Amer Soc Clinical Investigation Inc, 2011)
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and ...
Disruption of Ptpro Causes Childhood-Onset Nephrotic Syndrome
(Cell Press, 2011)
Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant ...
Clinicopathological And Immunohistological Features In Childhood Iga Nephropathy: A Single-Centre Experience
(2013)
Background IgA nephropathy is a glomerular disease diagnosed by renal biopsy and is characterized by a highly variable course ranging from a completely benign condition to rapidly progressive renal failure. We aimed to ...
Genotype-Phenotype Associations In Wt1 Glomerulopathy
(Nature Publishing Group, 2014)
WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant ...
Genotype/Phenotype Correlation In Nephrotic Syndrome Caused By Wt1 Mutations
(Amer Soc Nephrology, 2010)
Background and objectives: The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome ...
Long-Term Follow-Up Results Of Patients With Adck4 Mutations Who Have Been Diagnosed In The Asymptomatic Period: Effects Of Early Initiation Of Coq10 Supplementation
(2019)
ADCK4-related glomerulopathy is a recently recognized clinical entity associated with insidious onset in young children and a high potential to progress to chronic kidney disease in adolescents. Early initiation of exogenous ...