Wilson Disease in Children; Chelation Therapy or Liver Transplantation? A 10-Year Experience from Pakistan

Aaraj, Sahira; Khan, Sabeen Abid; Ali, Naurin; Malik, M.; Dar, Faisal Saud

doi:10.12659/aot.932606

Cited by 2 publications

(2 citation statements)

References 22 publications

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“…Liver transplant is the only lifesaving procedure after failed Kasai or as primary liver transplant due to chronic liver disease 27 . Biliary atresia was third most common indication for transplant in our center followed by cryptogenic cirrhosis and Wilson disease 28 …”

Section: Discussionmentioning

confidence: 96%

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Biliary atresia—An experience from the first pediatric liver transplant center in Pakistan

Khan

Ali

Dar

et al. 2022

Pediatric Transplantation

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Background: Biliary atresia (BA) is the most common cause of neonatal cholestatic syndrome. The true incidence of BA in Pakistan is largely unknown.Aim: This study aimed to report the clinical features, age at diagnosis and outcomes of biliary atresia from the first pediatric liver transplant center in Pakistan. Methods:The study was done in Shifa International hospital from 2013 to 2020. All babies who had biliary atresia confirmed by laboratory investigation were included.Demographic data, age of presentation, clinical presentation, supporting investigations like liver function tests, ultrasound abdomen, HIDA scan and liver biopsy were noted. Outcome related to Kasai portoenterostomy, liver transplant, complications and immunosuppressant agents were noted.Result: A total of 42 children were included, 23 (54.7%) males and 19 (45.2%) were females. Jaundice was seen in all patients (100%) followed by acholic stools (81%). Associated malformations were noted in 6 (14.2%) patients. Liver function tests confirmed obstructive cholestasis (p 0.04). Kasai was done in 19 (45%) patients only, living donor liver transplant was performed in 6 (14%) patients. Age range of transplant patients was from 3 months to 1 year. Indication for liver transplant was failed Kasai in 1(16.7%) patient and chronic liver disease in 5 (83.3%) patients. LDLT survivors were 10 months to 1 year of age at the time of transplant, mean age was 10.6 months.Maximum survival noted so far is 7 years. Acute complications seen post-transplant were sepsis (three patients), surgical site infections (two patients), biliary leaks and acute cellular rejection in one patient each. Chronic graft rejection, portal vein stricture needing stenting was done in one patient.Discussion: All patients underwent LDLT from related donors wih no donor related mortality. All are deceased patients were yonger and had advanced disease. BA remains third most commo indication of transplant in our center. Conclusion:Liver transplant is the only lifesaving procedure after failed Kasai or as primary liver transplant due to advance liver disease. The advent of liver transplantation services offers survival and improving outlook of the disease.

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Section: Discussionmentioning

confidence: 96%

“…27 Biliary atresia was third most common indication for transplant in our center followed by cryptogenic cirrhosis and Wilson disease. 28 All liver transplants were done from living related donors.…”

Section: Discussionmentioning

confidence: 99%

Biliary atresia—An experience from the first pediatric liver transplant center in Pakistan

Khan

Ali

Dar

et al. 2022

Pediatric Transplantation

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Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain

Isa,

Alahmed,

Busehail

et al. 2024

Cureus

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Introduction Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a mutation in the ATP7B gene. This mutation affects copper metabolism, leading to the accumulation of copper in the liver, brain, cornea, and other tissues. If not treated, WD can lead to significant morbidities. This study aimed to display the prevalence, clinical presentations, diagnosis, treatment, and outcome of WD in Bahrain. Methods This is a retrospective cohort study of patients diagnosed with WD in the Department of Pediatrics, Salmaniya Medical Complex, Manama, Kingdom of Bahrain, from March 2002 to July 2024. The diagnosis of WD was based on clinical presentations, laboratory markers, radiological imaging, and genetic testing. Results Up to July 2024, eight patients from four families were diagnosed with WD in Bahrain. Accordingly, the prevalence of WD was 1.7 patients per 100,000 (0.002%). Parental consanguinity was noted in all families. Males were equal to females (n=4, 50% each). The mean age at presentation was 13 ± 3.6 years, ranging from 9 to 21 years. Three patients (37.5%) presented with hepatic manifestations, two (25%) with neurological manifestations, and three (37.5%) were detected upon family screening. Kayser Fleischer (KF) rings were found in two (25%) patients via slit lamp examination. Of the seven patients with available data, five (71.4%) had low serum copper, six (85.7%) had low serum ceruloplasmin, and six (85.7%) had high 24-hour urinary copper. Genetic testing was positive for the ATP7B gene variants in all patients, of which four members of one family had a novel mutation. Abdominal ultrasound revealed hepatic cirrhosis in four (50%) patients, increased hepatic echogenicity in five (62.5%), splenomegaly in three (37.5%) patients, and ascites in one (12.5%) patient. Brain magnetic resonance imaging (MRI) was positive in three (50%) out of six patients. All patients received copper chelating therapy. Six (75%) patients survived; one of them underwent living-related liver transplantation due to rapidly progressive neurological symptoms. Two (25%) patients died due to hepatic failure and encephalopathy. Conclusion WD is a rare disorder in Bahrain. This study presents eight patients with WD from four families. Five patients were symptomatic at presentation, while three were diagnosed upon genetic family screening. Hepatic manifestations were the most common presentation, followed by behavioral changes and neurological symptoms. Two patients had KF rings, while three had classical brain MRI findings. Genetic testing served as a confirmatory diagnostic tool that revealed a diversity of variants causing the disease, of which one variant was a novel mutation. Despite oral chelating therapy, morbidity and mortality remain high in patients with WD.

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Wilson Disease in Children; Chelation Therapy or Liver Transplantation? A 10-Year Experience from Pakistan

Cited by 2 publications

References 22 publications

Biliary atresia—An experience from the first pediatric liver transplant center in Pakistan

Biliary atresia—An experience from the first pediatric liver transplant center in Pakistan

Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain

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