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Abstract
An adolescent girl presented with recurrent lower limb fractures and was managed as osteogenesis imperfecta. Low phosphate levels noted on routine investigation were the clue for the phosphaturia and subsequent diagnosis of proximal renal tubular acidosis (RTA). Further, with a history of jaundice, she was diagnosed with Wilson’s disease, which was the underlying cause of proximal RTA with isolated phosphaturia and consequent fractures. Standard treatment for Wilson’s disease along with supplementation of oral phosphate and bicarbonate led to complete recovery of fragile bones.
- Pediatrics
- Fluid electrolyte and acid-base disturbances
- Liver disease
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Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: MRM, AM, MM, VK. The following authors gave final approval of the manuscript: MRM, AM, MM, VK.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.