Wilson disease in children and adolescents

Fernando, Meranthi; Mourik, Indra van; Wassmer, Evangeline; Kelly, Déirdre

doi:10.1136/archdischild-2018-315705

Cited by 52 publications

(69 citation statements)

References 38 publications

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“…There are numerous ATP7B mutations. More than 700 ATP7B mutations have been discovered, and most are point mutations (Fernando et al, 2020). However, the pathogenic variants for WD are concentrated in several hotspot variants, and the others are rare variants, with significant geographical differences (Ala, 2015).…”

Section: Discussionmentioning

confidence: 99%

Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area

Qiao

Cheng

et al. 2021

Molec Gen & Gen Med

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Background Despite the increasing number of reports on the analysis of ATP7B variants, reports on carrier screening for Wilson's disease (WD, OMIM:277900) are rare. Methods Peripheral blood samples were collected from 42 patients from Qingdao Women and Children's Hospital diagnosed with WD for direct sequencing of ATP7B gene. Twelve hotspot variants of ATP7B were selected for carrier screening in Qingdao area based on an analysis of information related to ATP7B variants and literature reports in China. We screened 5012 dried blood spots (DBSs) from asymptomatic newborns in Qingdao area to estimate carrier frequency. DNA was extracted from dried blood spots. Gene sequencing was performed using multiplex polymerase chain reaction (PCR) combined with second‐generation sequencing. The carrier frequency of each hotspot variant was calculated using the count data (expressed as number of carriers (%) obtained by direct counting. Results The carrier frequency of 12 hotspot variants was 1.46% (95% CI: 1.16–1.83%). The ATP7B variant with the highest carrier frequency was c.2333G>T, accounting for 54.79% of all variants screened, followed by c.2975C>T and c.2621C>T, accounting for 17.81% and 15.07% of all variants screened, respectively. Conclusion Carrier frequency of ATP7B gene pathogenic variants is high in the population in Qingdao area.

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Section: Discussionmentioning

confidence: 99%

Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area

Qiao

Cheng

et al. 2021

Molec Gen & Gen Med

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“…Overload of this metal leads to Fenton-type redox reactions, resulting in oxidative injury [6]. Results of pathological accumulation of copper are observed in Wilson's disease, a recessively inherited disorder of copper metabolism [7]. Additionally, evidence for the relationship between high copper concentrations and heart failure, Parkinson's disease, and ischemic stroke were found in epidemiological studies [8][9][10].…”

Section: Introductionmentioning

confidence: 99%

The association between serum copper concentrations and elevated blood pressure in US children and adolescents: National Health and Nutrition Examination Survey 2011–2016

Liu

Liao

Zhu

et al. 2021

BMC Cardiovasc Disord

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Background Copper is an essential trace metal with potential interest for cardiovascular effects. Few studies have explored the association between copper and blood pressure in children and adolescents. Method We conducted a cross-sectional analysis of 1242 children and adolescents aged 8–17 years who participated in the 2011 to 2016 National Health and Nutrition Examination Survey. Using 2017 American Academy of Pediatrics guidelines, elevated blood pressure (EBP) was defined as a mean systolic and/or diastolic blood pressure (BP) ≥ 90th percentile for sex, age, and height for children aged 1–12 years and systolic BP ≥ 120 mmHg or diastolic BP ≥ 80 mmHg for adolescent age 13–17 years. Mean serum copper was 114.17 μg/dL. Results After multiple adjustments, dose–response analyses revealed that EBP was associated with progressively higher serum copper concentrations in a nonlinear trend. In comparison with the lowest quartile of serum copper concentrations, the adjusted odds of EBP for the highest quartile was 5.26 (95% confidence interval, 2.76–10.03). Conclusion Our results suggested that high serum copper concentrations were significantly associated with EBP in US children and adolescents.

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“…WD is a disease of copper metabolism, caused by mutations in the ATP7B gene required for copper excretion into the bile with increasing accumulation of copper in the central nervous system, eyes, kidneys, and heart. 14 , 15 In our group of children the 24 hour urine copper level was high after penicillamine challenge. The serum caeruloplasmin was low and they did not require further investigations like liver biopsy and genetic testing as the slit lamp examination of eyes showed KF rings.…”

Section: Discussionmentioning

confidence: 58%

Clinical spectrum of chronic liver disease with final outcome in children at a tertiary centre: A single - centre study

Seerat

Khan

Atique³

et al. 2021

Pak J Med Sci

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Background and Objectives: Chronic liver disease (CLD) in children present a broad spectrum of symptoms. Limited resources in Paediatric Hepatology in developing countries like Pakistan present considerable challenges in investigating and treating children with chronic liver disease in a timely fashion. This study aimed to determine the spectrum and outcomes of CLD other than chronic hep B & C virus (HBV& HCV) liver disease in children. Methods: This retrospective descriptive study was conducted at the Paediatric Gastroenterology and Hepatology Department, Pakistan Kidney and Liver Institute and Research Centre in Lahore, Pakistan. The duration of the study was from August 2019 to January 2020. A total of 162 children of CLD were seen during this period of time. Of 162 there were 130 children with chronic HBV & HCV who were excluded from this study. 32 children aged 15 years or younger with chronic liver disease were included. The referrals were received from primary and secondary health care centres in different parts of the country. The data were collected from hospital electronic medical records database and then incorporated into a spreadsheet for analysis. The statistical analysis was performed by applying t-test with p value determined. Results: Of 32 children autoimmune hepatitis (n=11; 34.3%) was the most common cause for chronic liver disease referrals, followed by progressive familial intrahepatic cholestasis type-2, (n=7; 21.8%), post Kasai for biliary atresia, (n=4; 12.5%), glycogen storage disease type-1 (n=5; 15.6%), Wilson disease (n=3; 9.3%) and primary sclerosing cholangitis (n=2; 6.2%). The diagnosis was principally established with the assistance of liver ultrasound, liver biopsy, magnetic resonance cholangiopancreatography and genetic testing. Conclusion: Autoimmune hepatitis was the most common chronic liver disease. Our systematic approach, in addition to an extensive workup, helped us to diagnose and then initiate an appropriate treatment, which resulted in a more optimal outcome. Prompt referrals to tertiary centres are recommended where resources and expertise are available to reduce patient morbidity and mortality. doi: https://doi.org/10.12669/pjms.37.3.3862 How to cite this:Seerat I, Khan ED, Atique M, Aujla UI. Clinical spectrum of chronic liver disease with final outcome in children at a tertiary centre: A single - centre study. Pak J Med Sci. 2021;37(3):---------. doi: https://doi.org/10.12669/pjms.37.3.3862 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Wilson disease in children and adolescents

Cited by 52 publications

References 38 publications

Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area

Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area

The association between serum copper concentrations and elevated blood pressure in US children and adolescents: National Health and Nutrition Examination Survey 2011–2016

Clinical spectrum of chronic liver disease with final outcome in children at a tertiary centre: A single - centre study

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