Articles with "tubular acidosis" as a keyword



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HEPARIN-INDUCED RENAL TUBULAR ACIDOSIS MASQUERADING AS HYPERKALEMIA IN A PATIENT WITH SARS-COV-2

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Published in 2021 at "Chest"

DOI: 10.1016/j.chest.2021.07.900

Abstract: TOPIC: Critical Care TYPE: Medical Student/Resident Case Reports INTRODUCTION: Renal tubular acidosis (RTA) is defined as inadequate excretion of acids via the kidneys to maintain the acid-base balance. In RTA type 4, there is either… read more here.

Keywords: heparin; etiology; tubular acidosis; hyperkalemia ... See more keywords
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Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

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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
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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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Published in 2021 at "Journal of pediatric genetics"

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
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Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.

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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
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Premature onset of Sjögren's syndrome is prone to be complicated with renal tubular acidosis

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Published in 2020 at "International Journal of Rheumatic Diseases"

DOI: 10.1111/1756-185x.13947

Abstract: Sjögren's syndrome (SS) is a common systemic autoimmune disease. SS usually occurs among middle‐aged women with a peak incidence age of approximately 50 years old. Kidney involvement is relatively uncommon in SS, which is mostly… read more here.

Keywords: premature onset; renal tubular; gren syndrome; age ... See more keywords
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Comprehensive analysis of clinical and laboratory features of 440 published cases of Sjögren's syndrome and renal tubular acidosis

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Published in 2022 at "International Journal of Rheumatic Diseases"

DOI: 10.1111/1756-185x.14483

Abstract: To describe the clinical and laboratory features of Sjögren's syndrome (SS) with renal tubular acidosis (RTA) from published literature. read more here.

Keywords: laboratory features; gren syndrome; renal tubular; tubular acidosis ... See more keywords
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Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis

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Published in 2021 at "Clinical Genetics"

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
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Alport’s syndrome with type 4 renal tubular acidosis

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Published in 2017 at "BMJ Case Reports"

DOI: 10.1136/bcr-2017-220146

Abstract: This case report details a 51-year-old man with Alport’s syndrome resulting in chronic nephritis with stable renal function and sensorineural deafness. The patient was being investigated for persistently raised potassium refractory to dietary and pharmacological… read more here.

Keywords: syndrome type; alport syndrome; tubular acidosis; renal tubular ... See more keywords
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Hypokalaemic paralysis as the initial clinical presentation of Sjogren’s syndrome induced distal renal tubular acidosis

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Published in 2021 at "BMJ Case Reports"

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
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Case Report: Recurrent hypokalemic periodic paralysis associated with distal renal tubular acidosis (type 1) and hypothyroidism secondary to Hashimoto´s thyroiditis.

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Published in 2018 at "F1000Research"

DOI: 10.12688/f1000research.15662.2

Abstract: Background: Hypokalemic periodic paralysis (HypoKPP) is characterized by transient episodes of flaccid muscle weakness. We describe the case of a teenaged boy with HypoKPP and hyperthyroidism due to Hashimoto's thyroiditis with initial manifestation of renal… read more here.

Keywords: case; tubular acidosis; renal tubular; hypokalemic periodic ... See more keywords