Case report of a child with nephronophthisis from South Africa.

BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and lung bronchiectasis. However, the involvement of other organ systems has also been documented. Extrarenal manifestations occur in approximately 10-20% of patients. In developed countries, it has been reported as one of the most common causes of monogenic chronic kidney failure (CKF) during the first three decades of life, with more than 25 genes associated with this condition. The current treatment options for managing NPHP include supportive care, management of complications, and kidney replacement therapy when necessary. The index patient is a 10-year-old Caucasian female who presented with recurrent attacks of abdominal pain. Her elder sister, TN, who was 17 years old, was diagnosed with CKF and noted to have persistently elevated liver enzymes (gamma-glutamyl transferase, alanine, and aspartate transaminases). Following genetic testing, her elder sister was shown to have Nephronophthisis Type 3, and a liver biopsy showed early fibrotic changes. Subsequent genetic testing confirmed the index patient as having NPHP Type 3. A kidney biopsy showed focal sclerosed glomeruli with patchy areas of tubular atrophy and related tubulointerstitial changes in keeping with NPHP. We present the first confirmatory case of NPHP from South Africa based on histopathology and genetic testing in a 10-year-old Caucasian female who presented with recurrent attacks of abdominal pain, whose elder sister also presented with CKF and early liver fibrosis, confirmed on biopsy and genetic testing. CONCLUSION: In low-middle-income countries, genetic testing should be undertaken whenever possible to confirm the diagnosis of NPHP, especially in those with a suggestive biopsy or if there is CKF of unknown aetiology with or without extra-renal manifestations.

The prevalence of chronic kidney disease in South Africa - limitations of studies comparing prevalence with sub-Saharan Africa, Africa, and globally.

BACKGROUND: Chronic kidney disease (CKD) is a globally significant non-communicable disorder. CKD prevalence varies between countries and within a country. We compared the prevalence rates of CKD in South Africa with sub-Saharan Africa, Africa, and globally. METHODS: We registered a systematic review with the International Prospective Register of Systematic Reviews for prevalence studies reporting CKD stages III-V from 2013 to 2021. The analysis sought to explain any significant differences in prevalence rates. The R statistical package was used for data analysis. Comparisons included measures of effect size due to the large sample sizes analysed. We also compared sex differences in prevalence rates, common aetiologies, and type of study methodologies employed. RESULTS: Eight studies were analysed, with two from each region. The matched prevalence rates of CKD between the various regions and South Africa showed significant differences, except for one comparison between South Africa and an African study [p = 0.09 (95% CI - 0.04-0.01)]. Both sub-Saharan African studies had a higher prevalence than South Africa. One study in Africa had a higher prevalence, while the other had a lower prevalence, whilst one Global study had a higher prevalence, and the other had a lower prevalence compared to South Africa. The statistical differences analysed using the Cramer's V test were substantially less than 0.1. Thus, differences in comparisons were largely due to differences in sample sizes rather than actual differences. CONCLUSION: Variable prevalence rates between regions included disparities in sample size, definitions of CKD, lack of chronicity testing and heterogeneous laboratory estimations of eGFR. Improved consistency and enhanced methods for diagnosing and comparing CKD prevalence are essential.

Paradoxical Perforating Folliculitis in a Newly Transplanted Kidney Recipient: Case Study.

We report on a rare case of perforating folliculitis with a paradoxical presentation. An 18-year-old patient with end-stage kidney failure was undergoing continuous ambulatory peritoneal dialysis following 1 year of hemodialysis treatment. While being treated with continuous ambulatory peritoneal dialysis, he developed an itchy papular eruption on an erythematous base over his face and chest, which was diagnosed as chicken pox and treatedwith acyclovir.He also underwent successful deceased donor kidney transplant 1 year later. On day 10 posttransplant, he presented with a papular eruption over the chest, face, and forearms. A skin biopsy revealed a perforating folliculitis lesion. He was treated with prednisone and tacrolimus, as part of the kidney transplant treatment. The skin lesions resolved progressively. His urea, creatinine, and electrolyte levels remained normal and on an ever-improving trend at each visit. By 4 months posttransplant, the skin lesions had resolved almost completely.

Evaluation of the CKD-EPI creatinine based glomerular filtration rate estimating equation in Black African and Indian adults in KwaZulu-Natal, South Africa.

BACKGROUND: The estimation of glomerular filtration rate (GFR) plays a vital role in assessment of the renal function. This study evaluated the performance of the CKD-EPIcreat and MDRD equations in the South African Kwa-Zulu Natal population. OBJECTIVES: The objectives if the study were to compare the of CKD-EPIcreat and MDRD equations in the selected population to the measured GFR using Sodium Technetium-99 m-diethylene-triamine-pentaacetate clearance derived GFR. METHOD: Records of adult patients with measured GFR performed at the Nuclear Medicine Department at Inkosi Albert Luthuli Central Hospital, Durban, South Africa from 1 April 2014 to 31 March 2016 were reviewed. eGFR for all included patients was calculated using the MDRD equation without African American correction factor and the CKD-EPIcreat equation with and without the African American correction factor for the Black African patients. Statistical comparison of the eGFR with measured GFR was performed with Bland Altman bias plots, Wilcoxon match pairs signed ranks test and accuracy within 10% and 30%.ROC curve analysis assessed the sensitivity and specificity at eGFR <90 and < 60 ml/min/1.73m2. RESULTS: After exclusion, 287 patients were included for analysis with sufficient numbers for only the Black African and Indian patients. None of the equations showed accuracy of eGFR within 30% of measured GFR for 90% of patients. In the Black African population, the CKD-EPIcreat equation without the correction factor performed best. 17% and 14.4% of the Black African participants would be reclassified with the CKD-EPIcreat equation without and with the African American correction factor respectively compared to mGFR at a cut-off of 60 mls/min/1.73m2. CONCLUSION: None of the evaluated equations attained the 2002 KDOQI benchmark of P30 >90%. 11.1-17% of individuals would have been incorrectly classified using the CKD-EPIcreat equation.

Prevalence of Primary Hypertension and Risk Factors in Grade XII Learners in KwaZulu-Natal, South Africa.

Hypertension in childhood leads to hypertension in adult life, the strongest risk factor being obesity. This study determined the prevalence of primary hypertension and its risk factors in Grade XII learners in KwaZulu-Natal, South Africa, from March 2016 to June 2017. Weight, height, body mass index (BMI), random finger prick cholesterol and glucose, and spot urine for an albumin : creatinine ratio were measured. An average of three separate blood pressure readings taken was at least 5 minutes apart. Five hundred and sixty-four learners had weight, height, and BMI; 536 had random blood glucose; and 545 had cholesterol and random spot urine albumin : creatinine ratios measured. Prehypertension was detected in 168 (29.7%) and hypertension in 77 (13.7%) of learners. Ninety (15.9%) were overweight and 75 (13,3%) were obese. Hypercholesterolaemia was present in 58 (10.8%) and a high spot random urine albumin : creatinine ratio in 5 (1.0%). None had a high blood glucose level. Both prehypertension and hypertension in all learners showed a significant increase with increasing BMI. Six (1.0%) learners had metabolic syndrome. Female learners in other racial groups (defined as Indian, mixed race, and White learners), overweight, and obese learners showed significantly higher rates of hypercholesterolaemia. We showed overweight and obesity as risk factors for prehypertension and hypertension. This presages the need for an appropriate diet and adequate exercise in a child's school career.