Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.10.002
Abstract: AIM OF THE STUDY Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in… read more here.
Keywords: inheritance; digenic inheritance; tubular acidosis; renal tubular ... See more keywords
MO003DISTAL RENAL TUBULAR ACIDOSIS IN PATIENTS WITH AUTOIMMUNE DISEASES
Sign Up to like & getrecommendations! Published in 2021 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfab077.003
Abstract: Distal renal tubular acidosis (DRTA) is characterized by hyperchloremic metabolic acidosis, with normal anion gap and with the inability to acidify the urine to a pH lower than 5.3. DRTA can evolve without symptoms and… read more here.
Keywords: acidosis; test; drta; vasculitis ... See more keywords
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis
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DOI: 10.1111/cge.14011
Abstract: The aim of this study was to analyze the genetic variants of 51 Chinese patients with distal renal tubular acidosis (dRTA) and explore the correlation between their genotype and phenotype. Eight variants of SLC4A1, 19… read more here.
Keywords: tubular acidosis; renal tubular; chinese patients; distal renal ... See more keywords
Secondary distal renal tubular acidosis and sclerotic metabolic bone disease in seronegative spondyloarthropathy
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DOI: 10.1136/bcr-2021-248712
Abstract: Adults with distal renal tubular acidosis (dRTA) commonly present with hypokalaemia (with/without paralysis), nephrolithiasis/nephrocalcinosis and vague musculoskeletal symptoms. All adults with dRTA should be thoroughly evaluated for systemic diseases, certain medications and toxins. The leading… read more here.
Keywords: drta; metabolic bone; bone; distal renal ... See more keywords
Clinical and Biochemical Characteristics of Patients with Renal Tubular Acidosis in Southern Part of West Bengal, India: A Retrospective Study
Sign Up to like & getrecommendations! Published in 2021 at "Indian Journal of Endocrinology and Metabolism"
DOI: 10.4103/ijem.ijem_785_20
Abstract: Purpose of the Study: Reversible proximal tubular dysfunction associated with distal renal tubular acidosis (dRTA) mimics type 3 RTA, a condition classically associated with features of both proximal RTA (pRTA) and dRTA. Proximal tubulopathy has… read more here.
Keywords: study; drta; tubular dysfunction; proximal tubular ... See more keywords