Human resources for nephrology in South Africa: A mixed-methods study.

INTRODUCTION: The global nephrology workforce is shrinking and, in many countries, is unable to meet healthcare needs. Accurate data pertaining to human resources in nephrology in South Africa is lacking. This data is critical for the planning and delivery of renal services and the training of nephrologists in South Africa to meet the challenge of the growing burden of chronic kidney disease. METHODS: A cross-sectional study of adult and paediatric nephrologists currently delivering nephrology services in South Africa was conducted. Participants were identified using various data sources, including the register of the Health Professions Council of South Africa. This cohort of doctors was described in terms of their demographics and distribution. A survey was then conducted among these nephrologists to collect additional information on their training, scope of practice, job satisfaction, challenges and future plans. Finally, two focus group interviews were conducted to probe themes identified from the survey data. RESULTS: A total of 120 adult nephrologists and 22 paediatric nephrologists were identified (an overall density of 2.5 per million population). There is a male predominance (66%) and the median age is 45 years. The bulk of the workforce (128 nephrologists, 92%) is distributed in three of the nine South African provinces, and two provinces have no nephrologist at all. The survey was completed by 57% of the nephrologists. Most reported positive attitudes to their chosen profession; however, 35 nephrologists (43%) reported an excessive workload, 9 (11%) were planning emigration and 15 (19%) were planning early retirement. A higher frequency of dissatisfaction regarding remuneration (39% vs. 15%) and unsatisfactory work conditions (35% vs. 13%) was observed amongst nephrologists working in the public sector compared to the private sector. A total of 13 nephrologists participated in the focus group interviews. The themes which were identified included that of a rewarding profession, an overall shortage of nephrologists, poor career planning, a need for changes to nephrologists' training, excessive workloads with inadequate remuneration, and challenging work environments. CONCLUSION: There are insufficient numbers of nephrologists in South Africa, with a markedly uneven distribution amongst the provinces and healthcare sectors. Qualitative data indicate that South African nephrologists are faced with the challenges of a high workload, obstructive policies and unsatisfactory remuneration. In the public sector, a chronic lack of nephrologist posts and other resources are additional challenges. A substantial proportion of the workforce is contemplating emigration.

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.

INTRODUCTION: The minimum criterion for the diagnosis of hypertrophic cardiomyopathy (HCM) is thickening of the left ventricular wall, typically in an asymmetrical or focal fashion, and it requires no functional deficit. Using this criterion, we identified a family with four affected individuals and a single unrelated individual essentially with restrictive cardiomyopathy (RCM). Mutations in genes coding for the thin filaments of cardiac muscle have been described in RCM and HCM with 'restrictive features'. One such gene encodes for cardiac troponin I (TNNI3), a sub-unit of the troponin complex involved in the regulation of striated muscle contraction. We hypothesised that mutations in TNNI3 could underlie this particular phenotype, and we therefore screened TNNI3 for mutations in 115 HCM probands. METHODS: Clinical investigation involved examination, echocardiography, chest X-ray and an electrocardiogram of both the index cases and close relatives. The study cohort consisted of 113 South African HCM probands, with and without known founder HCM mutations, and 100 ethnically matched control individuals. Mutation screening of TNNI3 for diseasecausing mutations were performed using high-resolution melt (HRM) analysis. RESULTS: HRM analyses identified three previously described HCM-causing mutations (p.Pro82Ser, p.Arg162Gln, p.Arg170Gln) and a novel exonic variant (p.Leu144His). A previous study involving the same amino acid identified a p.Leu144Gln mutation in a patient presenting with RCM, with clinical features of HCM. We observed the novel p.Leu144His mutation in three siblings with clinical RCM and varying degrees of ventricular hypertrophy. The isolated index case with the de novo p.Arg170Gln mutation presented with a similar phenotype. Both mutations were absent in a healthy control group. CONCLUSION: We have identified a novel disease-causing p.Leu144His mutation and a de novo p.Arg170Gln mutation associated with RCM and focal ventricular hypertrophy, often below the typical diagnostic threshold for HCM. Our study provides information regarding TNNI3 mutations underlying RCM in contrast to other causes of a similar presentation, such as constrictive pericarditis or infiltration of cardiac muscle, all with marked right-sided cardiac manifestations. This study therefore highlights the need for extensive mutation screening of genes encoding for sarcomeric proteins, such as TNNI3 to identify the underlying cause of this particular phenotype.