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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…
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Keywords:
heparin;
etiology;
tubular acidosis;
hyperkalemia ... See more keywords
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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…
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Keywords:
inheritance;
digenic inheritance;
tubular acidosis;
renal tubular ... See more keywords
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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…
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Keywords:
acidosis;
distal renal;
primary distal;
renal tubular ... See more keywords
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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…
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Keywords:
primary distal;
novel mutations;
tubular acidosis;
renal tubular ... See more keywords
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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…
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Keywords:
premature onset;
renal tubular;
gren syndrome;
age ... See more keywords
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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.
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Keywords:
laboratory features;
gren syndrome;
renal tubular;
tubular acidosis ... See more keywords
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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…
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Keywords:
tubular acidosis;
renal tubular;
chinese patients;
distal renal ... See more keywords
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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…
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Keywords:
syndrome type;
alport syndrome;
tubular acidosis;
renal tubular ... See more keywords
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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…
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Keywords:
acidosis;
sjogren syndrome;
tubular acidosis;
renal tubular ... See more keywords
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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…
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Keywords:
case;
tubular acidosis;
renal tubular;
hypokalemic periodic ... See more keywords