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Article

Distal renal tubular acidosis as presenting manifestation of Wilson disease in a 11-year-old girl.

CEN case reports - 1 Apr 2024

Saiteja Paraselli, Krishnamurthy Sriram, Deepthi Bobbity, Krishnasamy Sudarsan, Sravani Madhileti

Abstract excerpt

A 11-year-old girl was referred to the pediatric nephrology services of our hospital for evaluation of vitamin-D-refractory rickets. She was born to second-degree consanguineous parents. On examination, she had wrist widening and bilateral genu varum. She had normal anion gap metabolic acidosis, hypokalemia, and hyperchloremia. The fractional excretion of bicarbonate was 3% and the urine anion gap was positive....

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Source

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Identifiers

PMID: 37415038
DOI: 10.1007/s13730-023-00806-6
PMCID: PMC10982190

Genes

ATP6V0A4
ATP6V1B1
ATP7B
FOXI1
SLC4A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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