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
Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute
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DOI: 10.1055/s-0041-1724114
Abstract: Primary distal renal tubular acidosis (dRTA) or Type 1 RTA in children is caused by a genetic defect (involved genes ATP6V0A4, ATP6V1B1, SLC4A1, FOXI1, or WDR72), which causes tubular transport defects characterized by an inability… read more here.
Keywords: acidosis; distal renal; primary distal; renal tubular ... See more keywords
Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.
Sign Up to like & getrecommendations! Published in 2018 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2018.0057
Abstract: AIM To analyze the variants of the potential causative genes in five Chinese patients with primary distal renal tubular acidosis (dRTA) from five unrelated families, and to explore their possible genotype-phenotype correlations, so as to… read more here.
Keywords: primary distal; novel mutations; tubular acidosis; renal tubular ... See more keywords
A14211 A Double-blind randomized study for comparing the structure and function of the left ventricle after distal renal denervation and conventional intervention
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Hypertension"
DOI: 10.1097/01.hjh.0000548922.33085.89
Abstract: Objectives: We were comparing the structure and function of the heart after distal renal denervation (DRD) and conventional (CRD): in segmental branches of renal artery versus conventional main trunk therapy: 12 month study in patients… read more here.
Keywords: comparing structure; left ventricle; study; distal renal ... 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
Hypokalaemic paralysis as the initial clinical presentation of Sjogren’s syndrome induced distal renal tubular acidosis
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DOI: 10.1136/bcr-2020-241300
Abstract: A 41-year-old woman presented by ambulance with a 1-day history of new-onset paralysis and nausea and vomiting ongoing for 48 hours. She had no history of any similar episodes. Biochemical analysis showed profound hypokalaemia with… read more here.
Keywords: acidosis; sjogren syndrome; tubular acidosis; renal tubular ... 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
Renal Memo1 Differentially Regulates the Expression of Vitamin D-Dependent Distal Renal Tubular Calcium Transporters
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2018.00874
Abstract: Ablation of the Mediator of ErbB2-driven Cell Motility 1 (Memo1) in mice altered calcium homeostasis and renal calcium transporter abundance by an unknown mechanism. Here, we investigated the role of intrarenal Memo in renal calcium… read more here.
Keywords: calcium transporters; abundance; expression; distal renal ... See more keywords