Wilson′s disease - A rare cause of renal tubular acidosis with metabolic bone disease

Subrahmanyam, D. K. S.; Vadivelan, M; Giridharan, S.; Balamurugan, N

doi:10.4103/0971-4065.132017

Cited by 16 publications

(9 citation statements)

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“…Acquired distal RTA may occur as a result of some medications, including amphotericin B [ 22 ], lithium [ 23 ], and high doses of ibuprofen [ 24 ]. Secondary distal RTA often develops in association with systemic diseases [ 7 ], such as Sjögren’s syndrome (as in Clinical Case Presentation 1) [ 25 , 26 ], systemic lupus erythematosus [ 27 ], or primary sclerosing cholangitis [ 28 ], and inherited conditions, such as sickle cell anemia [ 29 ] and Wilson’s disease [ 30 ].…”

Section: Classification Of Rtamentioning

confidence: 99%

Renal Tubular Acidosis and Management Strategies: A Narrative Review

2020

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Renal tubular acidosis (RTA) occurs when the kidneys are unable to maintain normal acid−base homeostasis because of tubular defects in acid excretion or bicarbonate ion reabsorption. Using illustrative clinical cases, this review describes the main types of RTA observed in clinical practice and provides an overview of their diagnosis and treatment. The three major forms of RTA are distal RTA (type 1; characterized by impaired acid excretion), proximal RTA (type 2; caused by defects in reabsorption of filtered bicarbonate), and hyperkalemic RTA (type 4; caused by abnormal excretion of acid and potassium in the collecting duct). Type 3 RTA is a rare form of the disease with features of both distal and proximal RTA. Accurate diagnosis of RTA plays an important role in optimal patient management. The diagnosis of distal versus proximal RTA involves assessment of urinary acid and bicarbonate secretion, while in hyperkalemic RTA, selective aldosterone deficiency or resistance to its effects is confirmed after exclusion of other causes of hyperkalemia. Treatment options include alkali therapy in patients with distal or proximal RTA and lowering of serum potassium concentrations through dietary modification and potential new pharmacotherapies in patients with hyperkalemic RTA including newer potassium binders.

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Section: Classification Of Rtamentioning

confidence: 99%

Renal Tubular Acidosis and Management Strategies: A Narrative Review

2020

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“…Wilson's disease is an inherited disease. Generally, it presents with hepatic and neuropsychiatric expressions because of excessive deposition of copper in organs due to defect of copper transport by hepatic lysosomes (7). Extrahepatic manifestations, including renal and osteoarticular disorders, although described infrequently, present as features of Wilson's disease (8)(9)(10).…”

Section: Introductionmentioning

confidence: 99%

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

Zare

Mahbubi

Panahi

2021

jrenhep

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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.

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“…WD with neurological manifestation may or may not have symptomatic liver disease [ 11 ]. Occassionally patient of WD may present with renal stones, early osteoporosis, cardiomyopathy, pancreatitis, hypo parathyroidism, etc [ 12 13 ].…”

Section: Introductionmentioning

confidence: 99%

Wilson's Disease in Bangladeshi Children: Analysis of 100 Cases

Rukunuzzaman

2015

Pediatr Gastroenterol Hepatol Nutr

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PurposeTo evaluate clinical and laboratory profile of Wilson's disease (WD) in children.MethodsThis cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University Hospital. Bangladesh, over a period of 3 years. One hundred consecutive children of WD between 3 to 18 years of age were evaluated.ResultsMean age was 8.5±1.5 years. Male female ratio was 2:1. Ninety-one percent of patients were Muslim and 9% Hindu. A total of 53% cases of hepatic WD presented between 5 to 10 years of age and most of the neurologic WD manifested in 10-15 years age group. Sixty-nine children presented only with hepatic manifestations, 6 only with neurological manifestations, 14 with both hepatic and neurological manifestation, 10 children was asymptomatic and 1 patient presented with psychiatric features. WD presented as chronic liver disease (CLD) in 42%, CLD with portal hypertension in 34%, acute hepatitis in 20% and fulminant hepatic failure in 4% cases. Stigmata of CLD were found in 18% patients. Keiser-Fleischser ring was found in 76% total patients. Elevated serum transaminase was found in 85% cases, prolonged prothrombin time in 59% cases and hypoalbuminaemia in 53% cases. A total of 73% patients had low serum ceruloplasmin, basal urinary copper of >100 µg/day was found in 81% cases and urinary copper following penicillamine challenge of >1,200 µg/day was found in 92% cases.ConclusionMajority of studied WD children presented with hepatic manifestation of which 76% presented with CLD. Any child presented with jaundice after the age of 3 years should be investigated for WD.

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Wilson′s disease - A rare cause of renal tubular acidosis with metabolic bone disease

Abstract: We report a 16-year-old boy who presented with weakness of lower limbs. He was diagnosed to have Wilson's disease, renal tubular acidosis and osteoporosis. Screening of siblings showed that his younger sister was also affected by the disease.

Cited by 16 publications

References 4 publications

Renal Tubular Acidosis and Management Strategies: A Narrative Review

Renal Tubular Acidosis and Management Strategies: A Narrative Review

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

Wilson's Disease in Bangladeshi Children: Analysis of 100 Cases

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