A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria

Elham Zare,Maryam Panahi,Zahra Mahbubi

doi:10.15586/jrenhep.v5i2.123

Abstract

We report a short-statured, 39-year-old male presenting with recurrent kidney stones, history of refractory rickets, and bone deformity. He had been consuming multiple doses of calcium supplements and multiple courses of vitamin D over past 30 years beforeprior to reporting in our clinic without any significant laboratory or clinical improvement. The patient was diagnosed as having Fanconi’s syndrome attributable to Wilson’s disease. This patient highlighted that in case of resistant rickets, a high index of uncertainty must be invoked for Wilson’s disease. Appropriate timely recognition of this entity results in prompt ministrations and prevention of disability. We also presented and discussed reviews on Wilson’s disease from literature.

Highlights

Vitamin D deficiency because of inadequate serum levels is the most common cause of rickets that becomes apparent in the early years [1]
A comprehensive inspection of other etiologies of rickets is suggested in patients who are intractable to the replacement of vitamin D, including hypophosphatemic rickets, renal tubular acidosis (RTA), renal osteodystrophy, and vitamin D-resistant rickets [1,2,3,4,5]
Fanconi’s syndrome is a significant cause of hypophosphatemic rickets. It is described as proximal RTA when presented with other proximal tubular defects such as aminoaciduria, phosphaturia, glucosuria, and uricosuria [6]

Summary

Introduction

Vitamin D deficiency because of inadequate serum levels is the most common cause of rickets that becomes apparent in the early years [1]. A comprehensive inspection of other etiologies of rickets is suggested in patients who are intractable to the replacement of vitamin D, including hypophosphatemic rickets, renal tubular acidosis (RTA), renal osteodystrophy, and vitamin D-resistant rickets [1,2,3,4,5]. Fanconi’s syndrome is a significant cause of hypophosphatemic rickets. It is described as proximal RTA when presented with other proximal tubular defects such as aminoaciduria, phosphaturia, glucosuria, and uricosuria [6]. Extrahepatic manifestations, including renal and osteoarticular disorders, described infrequently, present as features of Wilson’s disease [8,9,10]. We present a 38-year-old male with rickets refractory to replacement of vitamin D because of Fanconi’s syndrome secondary to Wilson’s disease. A written informed consent was obtained from the patient, who was informed that the data could be submitted for publication

Case Report

Laboratory investigations

Findings

Discussion and Review of Literature