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Literature DB >> 15368714

Rare presentation of Wilson's disease: a case report.

Vikram Kalra¹, Sandeep Mahajan, Pawan Kumar Kesarwani.

Abstract

A female presented with pain in left flank, detected to have bilateral renal calculi with deranged liver functions. On investigation found her to have Wilson's disease with hypercalciuria and incomplete distal renal tubular acidosis. Patient was started on penicillamine following which her hepatitis improved but hypercalciuria persisted after 10 weeks of follow up. The rarity of such presentation and literature review for the same is discussed.

Entities: Chemical Disease Species

Mesh：

Year: 2004 PMID： 15368714 DOI： 10.1023/b:urol.0000034630.73124.36

Source DB: PubMed Journal: Int Urol Nephrol ISSN： 0301-1623 Impact factor: 2.370

9 in total

Review 1. Wilson's disease presenting as symptomatic urolithiasis: a case report and review of the literature.

Authors: S Y Nakada; M R Brown; R Rabinowitz
Journal: J Urol Date: 1994-09 Impact factor: 7.450

2. Hypercalciuria and nephrolithiasis in Wilson disease.

Authors: N Itami; Y Akutsu; H Tochimaru; Y Takekoshi
Journal: Eur J Pediatr Date: 1989-11 Impact factor: 3.183

3. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

Authors: R E Tanzi; K Petrukhin; I Chernov; J L Pellequer; W Wasco; B Ross; D M Romano; E Parano; L Pavone; L M Brzustowicz
Journal: Nat Genet Date: 1993-12 Impact factor: 38.330

4. Hypercalciuria in hepatolenticular degeneration (Wilson's disease).

Authors: R B LITIN; R V RANDALL; N P GOLDSTEIN; M H POWER; G R DIESSNER
Journal: Am J Med Sci Date: 1959-11 Impact factor: 2.378

5. Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease.

Authors: B Hoppe; T Neuhaus; A Superti-Furga; I Forster; E Leumann
Journal: Nephron Date: 1993 Impact factor: 2.847

6. Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease.

Authors: E Azizi; G Eshel; M Aladjem
Journal: Eur J Pediatr Date: 1989-04 Impact factor: 3.183

Review 7. Nephrolithiasis in renal tubular acidosis.

Authors: V M Buckalew
Journal: J Urol Date: 1989-03 Impact factor: 7.450

8. Renal stones in Wilson's disease.

Authors: D O Wiebers; D M Wilson; R A McLeod; N P Goldstein
Journal: Am J Med Date: 1979-08 Impact factor: 4.965

Review 9. Diagnosis and treatment of Wilson's disease.

Authors: G J Brewer; J K Fink; P Hedera
Journal: Semin Neurol Date: 1999 Impact factor: 3.420

9 in total

6 in total

6. Hypercalciuria and nephrocalcinosis as early feature of Wilson disease onset: description of a pediatric case and literature review.

Authors: Valeria Di Stefano; Elena Lionetti; Novella Rotolo; Mario La Rosa; Salvatore Leonardi
Journal: Hepat Mon Date: 2012-08-25 Impact factor: 0.660