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Exploring neonatal haemochromatosis and gestational alloimmune liver disease: a case series from a South African Tertiary Hospital

Thesis (MMed)--Stellenbosch University, 2024.

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Bibliographic Details
Main Author: Ganesan, Anika
Other Authors: Du Buisson, C. J.
Format: Thesis
Published: Stellenbosch : Stellenbosch University 2025
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access_status_str Open Access
author Ganesan, Anika
author2 Du Buisson, C. J.
author_browse Du Buisson, C. J.
Ganesan, Anika
author_facet Du Buisson, C. J.
Ganesan, Anika
author_sort Ganesan, Anika
collection Thesis
dc_rights_str_mv Stellenbosch University
description Thesis (MMed)--Stellenbosch University, 2024.
format Thesis
id oai:scholar.sun.ac.za:10019.1/131785
institution Stellenbosch University (South Africa)
last_indexed 2026-06-10T12:46:07.073Z
license_str Other — see source repository
provenance_str_mv Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository
publishDate 2025
publishDateRange 2025
publishDateSort 2025
publisher Stellenbosch : Stellenbosch University
publisherStr Stellenbosch : Stellenbosch University
record_format dspace
source_str SUNScholar — Stellenbosch University Repository
spelling oai:scholar.sun.ac.za:10019.1/131785 Exploring neonatal haemochromatosis and gestational alloimmune liver disease: a case series from a South African Tertiary Hospital Ganesan, Anika Du Buisson, C. J. Kali, G. Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health. Liver -- Diseases Neonatal infections Hemochromatosis Pregnancy -- Complications UCTD Thesis (MMed)--Stellenbosch University, 2024. ENGLISH ABSTRACT: The study aims to elucidate the clinical presentation, diagnosis, and treatment outcomes of infants with gestational alloimmune liver disease (GALD) and neonatal hemochromatosis (NH). It also seeks to highlight the importance of early recognition and management to improve survival rates in affected neonates. This case series involves a comprehensive review of clinical data from infants diagnosed with GALD-NH over a seven-year period. Data were collected from electronic case records and included clinical presentation, laboratory findings, treatment protocols, and outcomes. Diagnostic criteria included liver biopsy findings, immunohistochemical staining for C5b-9, and the presence of extrahepatic siderosis. Treatment protocols consisted of double-volume exchange transfusion followed by high-dose intravenous immunoglobulin (IVIG). The study identified four cases of GALD-NH. Affected neonates commonly presented with evidence of liver failure shortly after birth, often accompanied by multiorgan failure. Laboratory findings included marked coagulopathy, hyperammonemia, hypoglycemia, hypoalbuminemia, and significant hyperbilirubinemia. Elevated serum α-fetoprotein and iron studies revealed hypersaturation of transferrin and significant hyperferritinemia. Renal findings included persistent anuria, elevated creatinine levels, and normal-sized kidneys on ultrasound without congenital abnormalities. Some infants required peritoneal dialysis due to fluid overload and renal failure. Histopathological examination showed iron deposition in the renal tubular epithelium. AFRIKAANSE OPSOMMING: Geen opsomming beskikbaar. Masters 2025-03-24T09:40:33Z 2025-03-24T09:40:33Z 2024-12 Thesis https://scholar.sun.ac.za/handle/10019.1/131785 Stellenbosch University 34 pages : illustrations application/pdf Stellenbosch : Stellenbosch University
spellingShingle Liver -- Diseases
Neonatal infections
Hemochromatosis
Pregnancy -- Complications
UCTD
Ganesan, Anika
Exploring neonatal haemochromatosis and gestational alloimmune liver disease: a case series from a South African Tertiary Hospital
title Exploring neonatal haemochromatosis and gestational alloimmune liver disease: a case series from a South African Tertiary Hospital
title_full Exploring neonatal haemochromatosis and gestational alloimmune liver disease: a case series from a South African Tertiary Hospital
title_fullStr Exploring neonatal haemochromatosis and gestational alloimmune liver disease: a case series from a South African Tertiary Hospital
title_full_unstemmed Exploring neonatal haemochromatosis and gestational alloimmune liver disease: a case series from a South African Tertiary Hospital
title_short Exploring neonatal haemochromatosis and gestational alloimmune liver disease: a case series from a South African Tertiary Hospital
title_sort exploring neonatal haemochromatosis and gestational alloimmune liver disease a case series from a south african tertiary hospital
topic Liver -- Diseases
Neonatal infections
Hemochromatosis
Pregnancy -- Complications
UCTD
url https://scholar.sun.ac.za/handle/10019.1/131785
work_keys_str_mv AT ganesananika exploringneonatalhaemochromatosisandgestationalalloimmuneliverdiseaseacaseseriesfromasouthafricantertiaryhospital