GENOTYPING OF APDKD IN THE MULTIETHNIC POPULATION OF SOUTH AFRICA: PRELIMINARY RESULTS

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GENOTYPING OF APDKD IN THE MULTIETHNIC POPULATION OF SOUTH AFRICA: PRELIMINARY RESULTS

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Co-author 1

Cedric Xavier M Kapche mbobnda@gmail.com Nelson R Mandela School of Medicine, University of KwaZulu-Natal Nephrology Department Durban South Africa *

Co-author 2

Alain Assounga assounga.agh@gmail.com Nelson R Mandela School of Medicine, University of KwaZulu-Natal Nephrology Department Durban South Africa -

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Introduction

Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent heritable kidney disorder. It is characterised by the progressive development of kidney cysts, leading to loss of kidney function and end-stage kidney failure (ESKD). It is primarily caused by the PKD1 and PKD2 genes, which account for 85% and 15 % of cases, respectively. Genotyping in African populations is scarce. This study aimed to investigate the genotype-phenotype relationship in a multiracial population in South Africa.

Methods

Six patients with a clinical diagnosis of ADPKD followed up at the Inkosi Albert Luthuli Central Hospital were studied for the PKD1 gene using multiplex long-range PCR followed by next-generation sequencing on DNA extracted from peripheral blood.

Results

Of the six participants, only one was male, and three were Black Africans, two were White, and one was Indian/Asian. No family history was noted in 2 black Africans. The Mean ages at diagnosis and ESKD were 46.13 ± 7.22 and 51.80 ± 11.47, respectively. Hypertension and kidney failure were the most common complications, and liver cyst was the most frequent extra-renal manifestation (Table 1). Preliminary results of PDK1 analysis of the Indian/Asian participant with early manifestations of CKD revealed 95 PKD1 variants, including 90 SNPs, 2 deletions (RefSeq.18417delC, RefSeq.228887delC) and 3 insertions (RefSeq.29829insA, RefSeq.30299insC, RefSeq.30386insC).

		CX001	CX002	CX004	CX006	CX008	CX0011
Age at diagnosis of ADPKD		49	44	44	36	58	46
Age at ESKD		67	N/A	44	41	61	46
Sex		Female	Female	Male	Female	Female	Female
Race/Ethnicity		White	White	Black African	Black African	Black African	Indian Asian
Comorbid conditions		None	None	HIV	HIV	Hepatitis B	None
Clinical manifestations		HTN	HTN	HTN	HTN, Haematuria	HTN	HTN
Extra renal manifestations		Abdominal wall hernia, liver cysts	Liver cysts	None	None	Liver cyst	None
Family History	Polycystic Kidney Disease	Yes	Yes	Yes	No	No	Yes
Family History	ESKD	yes	Yes	Yes	No	No	No

Conclusion

Further analysis is ongoing.

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