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Updated: May 21, 2026

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
Published on: June 20, 2018
Renal tubular acidosis due to Wilson's disease presenting as metabolic bone disease
Atul Vijay Palkar1, Makardhwaj Sarvadaman Shrivastava, Namita J Padwal
1Department of Medicine, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, Maharashtra, India.
Abstract:
Two sisters presented with lower limb deformity and difficulty in walking without support. Both had short stature; however, neurodevelopment and secondary sexual characters were normal. Abdominal examination revealed splenomegaly and ophthalmic examination showed presence of Kayser-Fleischer (K-F) rings. Diagnosis of Wilson's disease was confirmed with low serum copper and ceruloplasmin levels. Further investigations revealed urinary acidification defect with hypercalciuria pointing towards distal renal tubular acidosis. Both patients were started on copper chelation therapy and showed gradual radiographic improvement in osteopaenia.
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