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Now showing items 81-90 of 149
Pediatric Nephrology and Rheumatology Practice Patterns in Granulomatosis with Polyangiitis: A Midwest Pediatric Nephrology Consortium Study
(2018)
Objective To assess practice pattern similarities and differences amongst pediatric rheumatologists and nephrologists in the management of pediatric Granulomatosis with Polyangiitis (GPA). Methods A voluntary survey was ...
The Phenotype Of Tnf Receptor-Associated Autoinflammatory Syndrome (Traps) At Presentation: A Series Of 158 Cases From The Eurofever/Eurotraps International Registry
(2014)
Objective To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international ...
Mutations In The Chloride-Bicarbonate Exchanger Gene Ae1 Cause Autosomal Dominant But Not Autosomal Recessive Distal Renal Tubular Acidosis
(Natl Acad Sciences, 1998)
Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either ...
A Phenocopy of Caii Deficiency: A Novel Genetic Explanation for Inherited Infantile Osteopetrosis with Distal Renal Tubular Acidosis
(British Med Journal Publ Group, 2003)
The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel of this autosomal recessive syndrome comprise oncreased ...
A Patient Heterozygous for R92Q Mutation with Periodic Fever and Aphthous Stomatitis, Pharyngitis, and Adenitis (Pfapa) Syndrome-Like Phenotype
(Turkish J Pediatrics, 2018)
Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by mutations located on the type 1 tumor necrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old ...