An audit of infants presenting with cholestatic jaundice at a secondary hospital in Johannesburg, South Africa

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N Yachad
T De Maayer


Background. Neonatal cholestatic jaundice is a common paediatric condition with a paucity of recent local data and a notable absence of locally influenced diagnostic algorithms.

Objectives. To describe the causes of cholestatic jaundice, investigations conducted and patient outcomes.

Methods. This was a retrospective file review of 96 patients presenting to the Specialist Clinic at Rahima Moosa Mother and Child Hospital in Johannesburg between 1 January 2014 and 31 December 2020. Clinical features, serum biochemistry at presentation, diagnostic investigations (haematological, radiological and histological), diagnosis and outcome were analysed during data collection.

Results. Ninety-six patients were included in the study. The median age of jaundice onset was at 2 months, while the median age of presentation was 3.3 months. Causes of jaundice fell into three main categories: 38 had biliary atresia (BA); 24 had another specific diagnosis; and 34 remained without an underlying diagnosis (idiopathic neonatal hepatitis). An overall mortality rate of 26% was noted at a median (interquartile range) age of 13 (5 - 24) months and it was highest in the BA group (n=14; 56%).

Conclusion. The evaluation of neonatal jaundice requires a wide differential and expeditious referral to optimise outcomes and avoid complications. Many patients remained undiagnosed, and the overall prognosis was poor. The authors recommend the development of a locally relevant diagnostic protocol to minimise delays in the identification, diagnosis and treatment of neonatal jaundice.

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How to Cite
An audit of infants presenting with cholestatic jaundice at a secondary hospital in Johannesburg, South Africa. (2024). South African Journal of Child Health, 18(2), e881.

How to Cite

An audit of infants presenting with cholestatic jaundice at a secondary hospital in Johannesburg, South Africa. (2024). South African Journal of Child Health, 18(2), e881.


Darmstadt G, Hamer D, Carlin J, Jeena P, Mazzi E, Narang A et al. Validation of visual estimation of neonatal jaundice in low-income and middle-income countries: a multicentre observational cohort study. BMJ Open. 2021;11(12):e048145. DOI: 10.1136/bmjopen-2020-048145

Tiker F, Tarcan A, Kilicdag H, Gürakan B. Early onset conjugated hyperbilirubinemia in newborn infants. The Indian Journal of Paediatrics. 2006;73(5):409-412. DOI: 10.1007/BF02758562

Andrianov M, Azzam R. Cholestasis in Infancy. Pediatric Annals. 2016;45(12):e414-e419. DOI: 10.3928/19382359-20161118-01

Fawaz R, Baumann U, Ekong U, et al. Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr. 2017;64(1):154-168. DOI: 10.1097/MPG.0000000000001334

Motala C, Ireland J, Hill I, Bowie M. Cholestatic Disorders of Infancy--Aetiology and Outcome. Journal of Tropical Paediatrics. 1990;36(5):218-222. DOI: 10.1093/tropej/36.5.218

Nicastro E, Di Giorgio A, Marchetti D, Barboni C, Cereda A, Iascone M et al. Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing. The Journal of Paediatrics. 2019;211:54-62. DOI: 10.1016/j.jpeds.2019.04.016

Van der Schyff F, Terblanche A, Botha J. Improving Poor Outcomes of Children With Biliary Atresia in South Africa by Early Referral to Centralised Units. JPGN Reports. 2021;2(2):e073. DOI: 10.1097/PG9.0000000000000073

Santos Silva E, Almeida A, Frutuoso S, et al. Neonatal cholestasis over time: Changes in epidemiology and outcome in a cohort of 154 patients from a Portuguese tertiary centre. Frontiers in Pediatrics. 2020;8. DOI: 10.3389/fped.2020.00351

Stormon M, Dorney S, Kamath K, O'Loughlin E, Gaskin K. The changing pattern of diagnosis of infantile cholestasis. Journal of Paediatrics and Child Health. 2001;37(1):47-50. DOI: 10.1046/j.1440-1754.2001.00613.x

Van Heerdan J, Maher H, Etheredge H, Fabian J, Loveland J, Botha J. Outcomes of paediatric liver transplant for biliary atresia. S Afr J Surg. 2019;57(3):17-23.

Choopa M, Kock C, Manda S, Terblanche A, Wittenberg D. Usefulness of ultrasonography and biochemical features in the diagnosis of cholestatic jaundice in infants. South African Journal of Child Health. 2016;10(1):75. DOI: 10.7196/SAJCH.2016.v10i1.1075

Feldman AG, Sokol RJ. Neonatal cholestasis: Updates on Diagnostics, Therapeutics, and Prevention NeoReviews. 2013;14(2): e819-e836. DOI: 10.1542/neo.22-12-e819

Gottesman L, Del Vecchio M, Aronoff S. Etiologies of conjugated hyperbilirubinemia in infancy: a systematic review of 1692 subjects. BMC Pediatrics. 2015;15(1). DOI: 10.1186/s12887-015-0506-5

Humphrey T, Stringer M. Biliary Atresia: US Diagnosis. Radiology. 2007;244(3):845-851. DOI: 10.1148/radiol.2443061051

Yachha SK, Khanduri A, Kumar M, et al. Neonatal cholestasis syndrome: an appraisal at a tertiary centre. Indian Pediatr. 1996;33(9):729-34.

Karpen S, Kamath B, Alexander J, Ichetovkin I, Rosenthal P, Sokol R et al. Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults. Journal of Pediatric Gastroenterology & Nutrition. 2021;72(5):654-660. DOI: 10.1097/MPG.0000000000003094

Ibrahim SH, Kamath BM, Loomes KM, Karpen SJ. Cholestatic liver diseases of genetic etiology: Advances and controversies. Hepatology. 2022;75(6):1627–46. DOI: 10.1002/hep.32437

Steenkamp V, Stewart M, Zuckerman M. Clinical and Analytical Aspects of Pyrrolizidine Poisoning Caused by South African Traditional Medicines. Therapeutic Drug Monitoring. 2000;22(3):302-306. DOI: 10.1097/00007691-200006000-00011

Scot G. Acute toxicity associated with the use of South African traditional medicinal herbs. Transactions of the Royal Society of South Africa. 2003;58(1):83-92. DOI: 10.1080/00359190309519938

Satekge T, Kiabilua O, Krause A, Pillay T. Five years of screening for galactosaemia in South Africa: Pitfalls of using Benedict’s test and thin layer chromatography to screen for galactosaemia in a developing country. Clinica Chimica Acta. 2020;505:73-77. DOI: 10.1016/j.cca.2020.02.018

Spínola C, Brehm A, Spínola H. Alpha-1-antitrypsin deficiency in the Cape Verde islands (Northwest Africa): High prevalence in a sub-Saharan population. Respiratory Medicine. 2010;104(7):1069-1072. DOI: 10.1016/j.rmed.2010.02.012

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