Browsing by Author "Sherpa, Sangay Chultim"
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Publication A Rare Case of Crigler-Najjar Syndrome Type 2(Nepal Health Research Council, 2025) Shrestha, Anil Kumar; Sherpa, Sangay Chultim; Karki, Asmita; Agrawal, Sumit; Paudel, Deepak RajCrigler–Najjar Syndrome Type 2 (CNS2) is a rare autosomal recessive disorder characterized by unconjugated hyperbilirubinemia due to partial deficiency of the enzyme uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1). We present a case of a 13-month-old male admitted to Kanti Children’s Hospital with persistent jaundice since birth. Diagnostic evaluation accompanied by gene sequencing confirmed CNS2 and the patient was effectively managed with orally administered phenobarbitone. CNS2 can be distinguished from other potential causes of unconjugated hyperbilirubinemia based on bilirubin concentration and the affected patient’s response to phenobarbitone. Genetic counselling is essential for the recognition and prevention of severe hyperbilirubinemia which, in the absence of timely medical intervention, may lead to neurotoxicity. Keywords: Case report; crigler-Najjar syndrome; genetic counseling; phenobarbitone; unconjugated hyperbilirubinemia.Publication Vitamin D Deficiency among Blood Transfusion-Dependent Beta Thalassemia Children Admitted to Tertiary Level Pediatric Hospital in Nepal: A Descriptive Cross-Sectional Study(Nepal Medical Association, 2024) Shrestha,Anil Kumar; Sherpa, Sangay Chultim; Gyawali, Bindu; Sharma, Manisha; Adhikari, Santosh; Shrestha, Suchitra; Bhattarai, Susan; Thapa, Sagar; Sharma, Devashish; Paudel, Prajwal; Gyawali, SushilAbstract Introduction: Children with beta thalassemia are on regular blood transfusions, which could result in iron deposition in the liver causing decreased synthesis of Vitamin D-25OH. There are limited publications on the association of Vitamin D deficiency with blood transfusion-dependent thalassemia in the Nepalese population. This study aims to determine the prevalence of Vitamin D deficiency among blood transfusion-dependent beta-thalassemia patients. Methods: This was a descriptive cross-sectional study conducted among beta-thalassemia major patients under 15 years of age, receiving regular blood transfusion, from July 17, 2022, to July 16, 2023, after attaining ethical approval from Ethical Review Committee, (reference number 155). Data were collected using convenience sampling, and descriptive analyses were performed using Microsoft Excel and Statistical Package for Social Sciences (SPSS) 2024. Results: A total of 127 blood transfusion-dependent beta-thalassemia major patients were included in the study, of whom 82 (64.56%) were female. Among these patients, 104 (81.88%) were aged between 5 and 14 year. Among 127, 41 (32.28%) had Vitamin D insufficiency, and 31 (24.40%) had Vitamin D deficiency. There were 12 (9.44%) underweight children. Conclusions: Vitamin D deficiency was seen in more than half of the children with blood transfusion dependent beta thalassemia major.