Wilson disease and IgA nephropathy: accidental or related?

Mao, Haixia; Qin, Jianhua; Kang, Ting; Ou, Santao

doi:10.1007/s11255-022-03159-8

Cited by 3 publications

(3 citation statements)

References 8 publications

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“…D-penicillamine can cause inhibition of enzymes required for collagen synthesis, thus can damage the glomerular basement membrane and reduce GFR or it can act as a hapten and induce the formation of immune complexes leading to membranous glomerulonephritis[ 56 ]. D-penicillamine-induced proteinuria occurs in < 10% of patients of Wilson disease and usually begins after 1 year of treatment[ 57 , 58 ]. The spectrum of D-penicillamine-induced nephrotoxicity ranges from membranous glomerulonephritis, tubule-interstitial disease, crescentic glomerulonephritis, Goodpasture’s syndrome and renal-limited vasculitis[ 59 , 60 ].…”

Section: Management Difficultiesmentioning

confidence: 99%

Challenges and dilemmas in pediatric hepatic Wilson’s disease

Ghosh,

Sen Sarma,

Samanta

2023

World J Hepatol

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Patients with liver cirrhosis are advised to limit their sodium consumption to control excessive fluid accumulation. Salt is the most common form in which sodium is consumed daily. Consequently, various recommendations urge patients to limit salt intake. However, there is a lack of consistency regarding salt restriction across the guidelines. Moreover, there is conflicting evidence regarding the efficacy of salt restriction in the treatment of ascites. Numerous studies have shown that there is no difference in ascites control between patients with restriction of salt intake and those without restriction. Moreover, patients with cirrhosis may have several negative effects from consuming too little salt, although there are no recommendations on the lower limit of salt intake. Sodium is necessary to maintain the extracellular fluid volume; hence, excessive salt restriction can result in volume contraction, which could negatively impact kidney function in a cirrhotic patient. Salt restriction in cirrhotic patients can also compromise nutrient intake, which can have a negative impact on the overall outcome. There is insufficient evidence to recommend restricted salt intake for all patients with cirrhosis, including those with severe hyponatremia. The existing guidelines on salt restriction do not consider the salt sensitivity of patients; their nutritional state, volume status and sodium storage sites; and the risk of hypochloremia. This opinion article aims to critically analyze the existing literature with regard to salt recommendations for patients with liver cirrhosis and identify potential knowledge gaps that call for further research.

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Section: Management Difficultiesmentioning

confidence: 99%

Challenges and dilemmas in pediatric hepatic Wilson’s disease

Ghosh,

Sen Sarma,

Samanta

2023

World J Hepatol

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“…WD, also referred to as hepatolenticular degeneration, is a sporadic autosomal recessive hereditary disorder disease. ATP7B gene mutation reduces the function of copper-transporting P-type ATPase, leading to impaired serum ceruloplasmin synthesis, biliary copper excretion, and systemic copper overload and deposition in multiple organs, including the liver, brain, cornea, kidney, bone, and joint (7)(8)(9). Hepatic, neurologic, and psychiatric disorders and Kayser-Fleischer (K-F) rings at the corneal limbus are the most common clinical manifestations of WD.…”

Section: Introductionmentioning

confidence: 99%

“…The reported possible causes of abnormal urine analysis in WD patients include the deposition of copper and/or immune complex, adverse drug-related events, hypercalcinuria, and abnormal blood coagulation secondary to hepatic dysfunction. (7,10,11). Instances of AS and WD occurring simultaneously or successively in the same patient are rare (12).…”

Section: Introductionmentioning

confidence: 99%

Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report

Wang

Dang

et al. 2023

Front. Pediatr.

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BackgroundAlport syndrome (AS) and Wilson's disease (WD) are genetic diseases that could lead to kidney damage. Herein, we report the clinical features and gene variants in a patient with WD and X-linked AS.Case presentationThe proband was a 12-year-old boy diagnosed with AS coexisting with WD at the age of 11 years. The patient underwent a medical check-up when he was 4 years and 8 months. Laboratory tests revealed elevated liver enzymes, decreased serum ceruloplasmin, increased 24-h urinary copper excretion, and one variant in the ATP7B gene. Then, the patient was diagnosed with WD. After 2 months of treatment with D-penicillamine and zinc salt, his liver function had recovered to normal levels, but he presented with microscopic hematuria. The hematuria did not resolve after switching to dimercaptosuccinic acid from D-penicillamine. In addition, he presented with proteinuria 3 years later. A renal biopsy was performed more than 6 years after the patient was diagnosed with WD, and electron microscopy showed that the basement membrane thickness was uneven, layered, and focal torn. Copper staining was negative. A genetic analysis identified a hemizygous variant (c.1718G > A, p. Gly573Asp) in COL4A5 and a homozygous variant (c.2975C > T, p. Pro992leu) in ATP7B. The patient’s urine protein–creatinine ratio was less than 1.0 mg/mg after a 1 year of follow-up, after enalapril was administered for treating AS.ConclusionThis case highlights a lack of improvement in renal function after conventional treatment provides a possible indication for performing renal biopsy or genetic testing to determine the etiology in order to facilitate subsequent clinical management. Clinicians should prevent the occurrence of diagnostic inaccuracies caused by diagnostic anchoring because an accurate diagnosis is essential for achieving precise treatment and improved prognosis.

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Kidney involvement in Wilson's disease: a review of the literature

Dang,

Chevalier,

Letavernier

et al. 2024

Clinical Kidney Journal

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Wilson's disease (WD) is a rare inherited disease due to the mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and its pathological accumulation in various organs such as the liver, the nervous system, or the kidneys. While liver failure and neuropsychiatric disorders are the most common features, less is known about the renal complications. We conducted a review of the literature to define the characteristics and pathophysiology of kidney involvement during WD. This review shed light on strong evidence for direct copper-toxicity to renal tubular cells. Excessive tubular copper accumulation might present with various degrees of tubular dysfunction, ranging from mild hydro-electrolytic and acid-base disorders to complete Fanconi syndrome. Proximal and distal renal tubular acidosis also favors development of nephrolithiasis, nephrocalcinosis and bone metabolism abnormalities. Indirect complications might involve renal hypoperfusion as occurs in hepatorenal or cardiorenal syndrome, but also tubular casts’ formation during acute hemolysis, rhabdomyolysis or bile cast nephropathy. Acute kidney failure is not uncommon in severe WD patients, and independently increases mortality. Finally, specific and long-term therapy by D-penicillamin, one of the most efficient drugs in WD, can cause glomerular injuries, such as membranous nephropathy, minimal-change disease, and rarely severe glomerulonephritis. Altogether, our study supports the need for interdisciplinary evaluation of WD patients involving nephrologists, with regular monitoring of tubular and glomerular functions, in order to provide adequate prevention of renal and bone involvement.

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Wilson disease and IgA nephropathy: accidental or related?

Cited by 3 publications

References 8 publications

Challenges and dilemmas in pediatric hepatic Wilson’s disease

Challenges and dilemmas in pediatric hepatic Wilson’s disease

Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report

Kidney involvement in Wilson's disease: a review of the literature

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