Wilson′s disease: An endocrine revelation

Kapoor, Nitin; Shetty, Sahana; Nicolaï, Thomas; Paul, Thomas

doi:10.4103/2230-8210.141383

Cited by 19 publications

(2 citation statements)

References 21 publications

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“…Hepatic steatosis in WD is probably caused by copper accumulation in the liver tissue, but it is possible that metabolic changes, such as those triggered by obesity, play a role in the pathogenesis of steatosis in these WD patients [ 16 ]. Diabetes and insulin resistance have also occasionally been reported in WD patients [ 17 ]. Excessive fat deposition in the liver and nuclear glycogen deposition have been proposed as contributing factors to hepatic insulin resistance in these individuals.…”

Section: Discussionmentioning

confidence: 99%

Obesity as a Confounding Factor in the Diagnosis of Wilson’s Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses

Bracciamà,

Sapuppo,

Rapisarda

et al. 2024

CIMB

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Wilson’s disease (WD) is a biallelic disease-causing variant in the ATP7B gene on chromosome 13q14.3 that results in copper accumulation in many organs, particularly the liver and brain. The phenotypic spectrum is wide and symptoms at onset can be heterogeneous. We describe two Sicilian siblings, a young man and his elder sister, both compound heterozygous for the variants c.1286-2A>G and c.2668G>A (p.Val890Met) in the ATB7B gene. The male patient presented with liver cirrhosis, which quickly progressed to end-stage liver disease (Child–Pugh score = C10), while his sister had moderate steatotic liver disease (SLD). Our findings highlight that SLD may not always be related to obesity in overweight patients, especially when there are other potential risk factors such as a family history of chronic liver disease, or the persistence of high transaminase despite the adoption of adequate dietary and pharmacological intervention. Screening for conditions such as WD could identify patients at risk of developing SLD and avoid delays in diagnosis. Phenotypic variability in WD is considerable; therefore, further studies are needed to identify which WD patients have a greater risk of developing SLD and determine factors that can predict the severity of the disease.

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Section: Discussionmentioning

confidence: 99%

Obesity as a Confounding Factor in the Diagnosis of Wilson’s Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses

Bracciamà,

Sapuppo,

Rapisarda

et al. 2024

CIMB

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“…In a number of patients, due to copper deposition in the proximal renal tubules, signs of kidney damage come to the fore, which leads to erroneous diagnosis of diseases such as pyelonephritis, glomerulonephritis, "salt" cystitis, and urolithiasis [57]. Other patients are diagnosed with various endocrine disorders, including decreased function of the thyroid and parathyroid glands [58].…”

Section: Clinical Symptoms Of Hepatolenticular Degenerationmentioning

confidence: 99%

Classification and Clinical Heterogeneity of Hepatolenticular Degeneration

Ovchinnikova,

Vaiman,

Shnayder

et al. 2023

jour

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Hepatolenticular degeneration (HLD) or Wilson-Konovalov disease (OMIM277900) is a hereditary monogenic autosomal recessive degenerative disease related to metabolic diseases - a category of storage diseases. HLD has been studied for more than 130 years. During this time, more classifications of this disease were proposed. In this review, we systematized all the proposed classifications of HLD. And we noticed, they are based on the following criteria: 1) clinical signs of the disease; 2) the sequence of their appearance as the pathology progresses (with the primary appearance of signs of liver or brain damage); 3) severity of the disease. This review also systematizes data on the clinical picture of HLD.

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