Nephrotic range proteinuria in an adolescent with a diagnosis of Wilson’s disease: Answers

Ağbaş, Ayşe; Bay, Eda Dilara; Başaran, Meryem Keçeli; İkizceli, Türkan; Kayhan, Gözde Kılıç

doi:10.1007/s00467-021-04961-9

Cited by 2 publications

(2 citation statements)

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“…Pathologically, we described the thinning of the glomerular basement membrane in WD patients for the first time. Penicillamine was mentioned to cause membranous nephropathy in previous reports (10). The pathological features of membranous nephropathy mainly include the thickening of the glomerular capillary basement membrane, granular deposits in the glomerular capillary wall, and fusion of podocytes (18).…”

Section: Discussionmentioning

confidence: 99%

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Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane

Xu,

Lv,

Chen

et al. 2023

Front. Neurol.

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IntroductionWilson's disease is an autosomal recessive disorder caused by ATP7B pathogenic mutations. The hallmark of this disorder mainly consists of liver involvement, neurologic dysfunction and psychiatric features. In addition, the kidneys can also be affected by excessive copper deposition.MethodsA total of 34 patients clinically diagnosed with WD were recruited. They underwent ATP7B gene sequencing and clinical data of symptoms, examination, and treatment were collected. Moreover, renal pathology information was also investigated.ResultsWe identified 25 potentially pathogenic ATP7B variants (16 missense, 5 frameshift, 3 splicing variants and 1 large deletion mutation) in these 34 WD patients, 5 of which were novel. In our cases, the most frequent variant was c.2333G>T (R778L, 39.06%, exon 8), followed by c.2621C>T (A874V, 10.94%, exon 11) and c.3316G>A (V1106I, 7.81%, exon 11). Furthermore, we described the thinning of the glomerular basement membrane as a rare pathologically damaging feature of Wilson's disease for the first time. Additionally, two patients who received liver transplant were observed with good prognosis in present study.DiscussionOur work expanded the spectrum of ATP7B variants and presented rare renal pathological feature in WD patients, which may facilitate the development of early diagnosis, counseling, treatment regimens of WD.

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Section: Discussionmentioning

confidence: 99%

“…The genetic defect in ATP7B usually results in liver injury and neuropsychiatric involvement, while kidney disease is a presenting feature in only approximately 1% of patients ( 10 ). Clinically, excess copper in renal parenchyma may cause renal dysfunction, which manifests as hematuria, proteinuria, and so on ( 4 , 11 ).…”

Section: Introductionmentioning

confidence: 99%