Renal tubular acidosis due to Wilson's disease presenting as metabolic bone disease

Palkar, Atul; Shrivastava, Makardhwaj; Padwal, Namita; Padhiyar, Rupal N; Moulick, Nivedita

doi:10.1136/bcr.04.2011.4121

Cited by 18 publications

(18 citation statements)

References 7 publications

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“…Clinical manifestations include hypokalaemia, nephrocalcinosis, hypercalciuria, rickets or osteomalacia 1 , 2 . Osteomalacia and rickets are classified as metabolic bone diseases, qualitative in nature resulting from inadequate bone mineralization 3 . Rickets occur in bones where growth plates have not achieved maturity as compared to osteomalacia which occurs in the adult age group 3 .…”

Section: Discussionmentioning

confidence: 99%

“…Osteomalacia and rickets are classified as metabolic bone diseases, qualitative in nature resulting from inadequate bone mineralization 3 . Rickets occur in bones where growth plates have not achieved maturity as compared to osteomalacia which occurs in the adult age group 3 . However, it must be kept in mind that primary and secondary deficits in vitamin D or impaired metabolism of vitamin D are the most common causation of osteomalacia.…”

Section: Discussionmentioning

confidence: 99%

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Bilateral Proximal Femur Fractures in a Patient with Renal Tubular Acidosis: A Case Report

Charl

Shahrul-Hisham

Mohamad-Sha

2018

MOJ

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The diagnosis of pathological fractures is on the rise. The morbidity involved does not only burden the patient and their families but it has a great toll on the healthcare system as well. Early identification of the patient at risk is an invaluable tool to cut cost and improve the patient’s quality of life. Multiple renal pathologies have been highlighted in relation to the risk of pathological fractures; however, complications in renal tubular acidosis have been rarely documented. Nevertheless, prompt action with adequate and relevant patient education ultimately can reduce the associated morbidity. We present a case of poor control of the disease and its debilitating pathological fracture complications.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Bilateral Proximal Femur Fractures in a Patient with Renal Tubular Acidosis: A Case Report

Charl

Shahrul-Hisham

Mohamad-Sha

2018

MOJ

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“…A total of 88% of patients with WD have radiographic evidence of osteoporosis 4. Various mechanisms implicated in the pathogenesis of musculoskeletal manifestations of WD are:

A genetic variant of WD;

Secondary to renal tubular acidosis,

Hypoparathyroidism;

Prolonged immobilisation;

Due to hepatic dysfunction 5

…”

Section: Discussionmentioning

confidence: 99%

Pathological fractures as an initial presentation of Wilson's disease

2013

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Wilson's disease (WD) has varied phenotypic presentations. Here we report the case of a 16-year-old boy who presented with a history of multiple pathological fractures, severe joint deformities, hepatic dysfunction, cognitive decline and limb dystonia. On examination, the patient had pinched out facies, pallor and leukonychia totalis. Bilateral Kayser Fleischer (KF) ring was present. Musculoskeletal examination revealed pectus carinatum, bilateral genu valgus and gun-stock deformity of the left elbow joint. Splenomegaly and moderate ascites were present. Neurological examination revealed mild rigidity and intermittent episodes of dystonic posturing of all four limbs. On this basis a diagnosis of WD with dystonia with cirrhosis of liver with portal hypertension with renal tubular acidosis with renal rickets was thought likely. Investigations confirmed the diagnosis. The patient was started on treatment but he did not improve. He suffered aspiration pneumonia during his hospital stay and succumbed to the illness.

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“…This is an extremely rare presenting feature of Wilson's disease. 5 Here we report a 22-year-old man presented with rickets due to distal RTA secondary to Wilson's disease. contributory.…”

Section: Introductionmentioning

confidence: 87%

Rickets Due to Distal Renal Tubular Acidosis– an Uncommon Presentation of Wilson’s Disease

Azad

Alam

Quayum³

et al. 2018

Bangla J Med

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Rickets is a disease of bone mineralization of growth plate. Refractory rickets can be caused by distal (type 1) renal tubular acidosis (RTA). A number of conditions can result in distal RTA and Wilson's disease is an uncommon entity. Wilson's disease is a rare autosomal recessive disorder of copper metabolism with diverse presentations. We describe a case of refractory rickets due to distal RTA, caused by Wilson's disease. Diagnosis of Wilson's disease was confirmed with presence of Kayser-Fleischer (K-F) rings and high urinary copper. Further investigations revealed urinary acidification defect with hypercalciuria pointing towards distal RTA. He was treated with penicillamine & oral Zinc and significant clinical improvement was observed.

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Renal tubular acidosis due to Wilson's disease presenting as metabolic bone disease

Cited by 18 publications

References 7 publications

Bilateral Proximal Femur Fractures in a Patient with Renal Tubular Acidosis: A Case Report

Bilateral Proximal Femur Fractures in a Patient with Renal Tubular Acidosis: A Case Report

Pathological fractures as an initial presentation of Wilson's disease

Rickets Due to Distal Renal Tubular Acidosis– an Uncommon Presentation of Wilson’s Disease

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