Annals of Pediatric Gastroenterology and Hepatology ISPGHAN

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2023 | July-September | Volume 5 | Issue 3

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CASE REPORT

Jasna Nizar Raseena, Prasanth KN Sobhan, Ajith K Ananda Krishnan Sarasam

A Rare Cause of Cirrhosis in a Toddler

[Year:2023] [Month:July-September] [Volume:5] [Number:3] [Pages:2] [Pages No:45 - 46]

Keywords: Case report, Glycogen storage disorder IV, Progressive hepatic type, Liver transplantation

   DOI: 10.5005/jp-journals-11009-0138  |  Open Access |  How to cite  | 

Abstract

Glycogen storage disorder (GSD) type IV, also called Anderson disease or amylopectinosis, is an uncommon autosomal recessive disease resulting from a deficiency of glycogen branching enzyme, causing accumulation of amylopectin-like glycogen, which could harm the affected tissues. The disorder is caused by a mutation in the GBE1 gene positioned in chromosome 3p12. The GSD IV patients showcase a continuum of various phenotypes with various ages of onset, clinical manifestations, severity, and organ involvement. The progressive hepatic type is the most common and classic presentation characterized by means of hepatomegaly and early progressive cirrhosis. The disease is diagnosed by the demonstration of glycogen branching enzyme deficiency in liver, muscle or skin fibroblasts, or the identification of biallelic pathogenic variants in GBE1 on molecular genetic testing. Clinically, the classic Anderson disease is a rapidly advancing disorder leading to terminal liver failure unless intervened. The disorder is distinctive in that liver transplantation has a favorable outcome in these patients, and early diagnosis is lifesaving. Here, we describe a case of progressive hepatomegaly with cirrhosis diagnosed to be GSD IV, underwent living donor liver transplantation and improved on follow-up.

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REVIEW ARTICLE

Arti Pawaria, Mridul C Das, Vikrant Sood

Vitamin K and Glucose-6-phosphate Dehydrogenase Deficiency: A Perspective

[Year:2023] [Month:July-September] [Volume:5] [Number:3] [Pages:5] [Pages No:47 - 51]

Keywords: Glucose-6-phosphate dehydrogenase deficiency, Review, Vitamin K

   DOI: 10.5005/jp-journals-11009-0133  |  Open Access |  How to cite  | 

Abstract

The use of vitamin K in a patient with suspected or proven glucose-6-phosphate dehydrogenase (G6PD) deficiency is a controversial topic with divided opinions even among the subject experts. We thus aim to summarize the available literature and provide the personal viewpoint of the authors on this aspect.

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Journal Watch

Journal Club

[Year:2023] [Month:July-September] [Volume:5] [Number:3] [Pages:2] [Pages No:52 - 53]

   DOI: 10.5005/jp-journals-11009-0132  |  Open Access |  How to cite  | 

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PUBLICATIONS BY ISPGHAN MEMBERS IN PUBMED INDEXED JOURNALS

K S Prasanth

Publications by ISPGHAN Members in PubMed Indexed Journals (26th May 2023–27th August 2023)

[Year:2023] [Month:July-September] [Volume:5] [Number:3] [Pages:4] [Pages No:54 - 57]

   DOI: 10.5005/jp-journals-11009-0134  |  Open Access |  How to cite  | 

268

Conference Report

National Mid-term Conference of ISPGHAN: 17th–18th June 2023 (Mysuru)

[Year:2023] [Month:July-September] [Volume:5] [Number:3] [Pages:1] [Pages No:58 - 58]

   DOI: 10.5005/jp-journals-11009-0135  |  Open Access |  How to cite  | 

147

Conference Report

Bhaswati Acharyya

Literature Festival

[Year:2023] [Month:July-September] [Volume:5] [Number:3] [Pages:1] [Pages No:59 - 59]

   DOI: 10.5005/jp-journals-11009-0136  |  Open Access |  How to cite  | 

156

Quiz

Moinak Sen Sarma

Quiz

[Year:2023] [Month:July-September] [Volume:5] [Number:3] [Pages:1] [Pages No:60 - 60]

   DOI: 10.5005/apgh-5-3-60  |  Open Access |  How to cite  | 

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