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Toplam kayıt 63, listelenen: 31-40
Specific Podocin Mutations Correlate With Age Of Onset In Steroid-Resistant Nephrotic Syndrome
(Amer Soc Nephrology, 2008)
Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype-phenotype correlation between podocin mutations and age of ...
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis
(Amer Soc Nephrology, 2017)
Background and objectives Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis ...
The Position Of The Polycystic Kidney Disease 1 (Pkd1) Gene Mutation Correlates With The Severity Of Renal Disease
(Amer Soc Nephrology, 2002)
The severity of renal cystic disease in the major form of autosomal dominant polycystic kidney disease (PKD1) is highly variable. Clinical data was analyzed from 324 mutation-characterized PKD1 patients (80 families) to ...
Thirteen Novel Nphs1 Mutations In A Large Cohort Of Children With Congenital Nephrotic Syndrome
(Oxford Univ Press, 2008)
Background. Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of ...
Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children
(Amer Soc Nephrology, 2017)
We investigated the value of genetic, histopathologic, and early treatment response information in prognosing long-term renal outcome in children with primary steroid-resistant nephrotic syndrome. From the PodoNet Registry, ...
Normal 25-Hydroxyvitamin D Levels Are Associated With Less Proteinuria And Attenuate Renal Failure Progression In Children With Ckd
(Amer Soc Nephrology, 2016)
Angiotensin-converting enzyme inhibitors (ACEi) for renin-angiotensin-aldosterone system (RAAS) blockade are routinely used to slow CKD progression. However, vitamin D may also promote renoprotection by suppressing renin ...
A Classification of Hemolytic Uremic Syndrome and Thrombotic Thrombocytopenic Purpura and Related Disorders
(Elsevier Science Inc, 2006)
The diagnostic terms hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP) are based on historical and overlapping clinical descriptions. Advances in understanding some of the causes of the syndrome ...
Nephropathic Cystinosis: An International Consensus Document
(Oxford Univ Press, 2014)
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. ...
Nutritional Assessment Of Children On Haemodialysis: Value Of Igf-I, Tnf-Alpha And Il-1 Beta
(Oxford Univ Press, 1998)
Background. Protein-energy malnutrition (PEM) is associated with increased morbidity and mortality in haemodialysis (HD) patients. Insulin-like growth factor I (IGF-I) has proved to be a sensitive marker of malnutrition, ...
Nphs2 Gene Mutation In An Iranian Family With Familial Steroid-Resistant Nephrotic Syndrome
(Soc Espanola Nefrologia Dr Rafael Matesanz, 2012)