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Background: Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disorder that leads to the accumulation of globotriasylceramide in the lysosomes in tissues throughout the body. The responsible gene is α-galactosidase A, found at chromosome Xq22. More than 400 mutations have been identified. The disease usually presents in childhood, is progressive and multisystem, and results in increasing disability and premature death. Objective: The objectives of these guidelines are to provide a standard of care for patients with AFD that is in keeping with that internationally, but which is also realistic for South Africa, and to provide a shared-care model for treating physicians and funders with regard to various aspects of care for these patients. Recommendations: All heathcare professionals involved in the diagnosis and management of AFD should take note of these guidelines and try to implement them in clinical practice as far as possible. Validation: These guidelines were developed through general consensus by the Lysosomal Storage Disorder Medical Advisory Board, and are largely based on the UK 2005 national guidelines for AFD, but have also been updated to include new treatment recommendations for enzyme replacement therapy based on evidence from subsequent publications. Conclusion: It is the intention that these guidelines will benefit all patients suffering from AFD disease, and enable them to be diagnosed and offered the best possible available care. [ABSTRACT FROM AUTHOR]

BACKGROUND: C.E.R.A. (methoxy polyethylene glycol-epoetin beta), a continuous erythropoietin receptor activator, was developed to provide stable control of hemoglobin (Hb) levels at extended administration intervals in patients with chronic kidney disease. We examined its efficacy for Hb level correction when administered once every 2 weeks in erythropoiesis-stimulating agent-naive dialysis patients. STUDY DESIGN: Open-label, multicenter, randomized, parallel-group, phase 3 study. SETTING & PARTICIPANTS: Dialysis patients (age >or= 18 years). INTERVENTION: Patients (n = 181) were randomly assigned (3:1) to receive intravenous C.E.R.A. once every 2 weeks or epoetin 3 times weekly. OUTCOMES & MEASUREMENTS: The primary end point was Hb level response rate (increase in Hb level >or= 1 g/dL [10 g/L] versus baseline and Hb level >or= 11 g/dL [110 g/L] without blood transfusion during the 24-week correction period) in the intent-to-treat population. RESULTS: Hb response rates (intent-to-treat population) were 93.3% with C.E.R.A. and 91.3% with epoetin. Similar results were found in the per-protocol population. Peak mean Hb levels were 12.28 +/- 1.13 (SD) g/dL (122.8 +/- 11.3 g/L) with C.E.R.A. and 12.19 +/- 1.24 g/dL (121.9 +/- 12.4 g/L) with epoetin. Mean change in Hb levels from baseline to the end of the correction period were 2.70 +/- 1.45 g/dL (27 +/- 14.5 g/L) with C.E.R.A. and 2.56 +/- 1.31 g/dL (25.6 +/- 13.1 g/L) with epoetin. Both treatments were generally well tolerated. LIMITATIONS: Open-label study design, 3:1 randomization, limited peritoneal dialysis population, descriptive statistics, and lack of formal prespecified comparison to epoetin. CONCLUSIONS: Intravenous C.E.R.A. once every 2 weeks may be as safe and effective as 3-times-weekly epoetin for correcting anemia in dialysis patients. These results show the utility of intravenous C.E.R.A. administered once every 2 weeks in erythropoiesis-stimulating agent-naive dialysis patients.Copyright © 2007 by Elsevier Inc. [ABSTRACT FROM AUTHOR]

A response by Gerntholtz to a letter to the editor about his article "HIV-related nephropathy: a South African perspective" published in the May 2, 2006 issue is presented.

Pompe disease (PD) is an autosomal-recessively inherited neuromuscular disease that, if not diagnosed and treated early, can be fatal. It can present from early infancy into adulthood. Due to the lack of acid alpha-glucosidase, there is progressive intracellular accumulation of glycogen. The severity of the disease is determined by age of onset, organ involvement including the degree of severity of muscle involvement, as well as rate of progression. PD is classified into two groups: infantile and late-onset, each having two subgroups. The need for two tests performed by separate methods (screening and confirmatory) is outlined. It is imperative to try to reduce the time to diagnosis and to recognise the possibilities of false-positive results. A multidisciplinary team approach to treatment of affected patients is optimum with, as team leader, a physician who has experience in managing this rare disorder. In this article, we present a brief overview of the disease and provide guidelines for diagnosis and management of this condition in South Africa.

Background: Gaucher disease is an autosomal recessive lysosomal glycosphingolipid storage disorder resulting from a deficiency of lysosomal enzyme acid β-glucosidase (glucocerebrosidase). This partial enzyme deficiency results in accumulation of glycosphingolipid-laden macrophages (Gaucher cells) throughout the liver, spleen, bone marrow, skeleton, lungs and brain (only in types 2 and 3)., Objective: These guidelines aim to provide a standard of care for patients with Gaucher disease in keeping with international standards, but also realistic for South Africa, and to provide a shared-care model for treating physicians and funders regarding care for these patients., Recommendations: All healthcare professionals involved in the diagnosis and management of Gaucher disease should take note of and implement these guidelines in clinical practice as far as possible., Validation: These guidelines were developed through consensus by the Lysosomal Storage Disorder Medical Advisory Board. They are largely based on the UK 2005 National Guidelines for Gaucher Disease, but include new treatment recommendations for enzyme replacement therapy based on subsequent publications. The Southern African Society for Human Genetics (SASHG) (who have endorsed the guidelines) and the National Osteoporosis Foundation of South Africa (NOFSA) provided valuable input. GUIDELINES SPONSOR: Genzyme initiated the project and sponsored the meetings of the Advisory Board and all costs generated by these meetings., Conclusion: It is intended that these guidelines will enable all patients suffering from Gaucher disease to be diagnosed and offered the best possible care available.

Chronic kidney disease (CKD) is not a priority on the health agenda in Africa and it remains a 'forgotten condition'. Most people in Africa do not have access to dialysis or transplantation, if they develop end-stage renal disease. Cardiovascular disease (CVD) and HIV/AIDS enjoy a more prominent profile as a serious cause of morbidity and mortality, but despite the clear links of CVD and HIV with CKD, there has been a failure to highlight the link between chronic illnesses like diabetes, hypertension and HIV/AIDS and both CKD and CVD. Management of chronic illnesses requires a functioning public health system and good links between primary and specialist care. Despite calls to establish CKD prevention programs, there are very few in Africa and they have not been integrated into existing primary healthcare systems. This is aggravated by shortages of both financial and human resources and failure to strengthen health systems managing chronic diseases. The result is that very few people in Africa with CKD are managed early or receive dialysis or transplantation. This article investigates some of the issues impacting on the recognition of CKD as a public health issue, and will also consider some factors which could make CKD a more prominent chronic disease in Africa., (Copyright © 2010 S. Karger AG, Basel.)

Diabetes (DM) and its resultant complications are a problem worldwide, and especially in developing countries like South Africa (SA). Risk factors associated with DM are potentially modifiable, but DM control is poor. Problems in SA include high prevalence of morbidity from DM and hypertension (HTN), lack of recognition of the importance of chronic kidney disease (CKD), late presentation to health care services, lack of education of health providers and patients, and poor quality of care in primary health care settings (PHC). In response, there has been growing advocacy for prevention strategies and improved support and education for primary health care nurses (PHCNs). A Chronic Disease Outreach Program (CDOP), based on the chronic care model was used to follow patients with DM and HTN, support PHCN, and improve health systems for management in Soweto. A group of 257 DM patients and 186 PHCN were followed over 2 years, with the study including the evaluation of 'functional' and clinical outcomes, diary recordings outlining program challenges, and a questionnaire assessing PHCNs' knowledge and education support, and the value of CDOP. CDOP was successful in supporting PHCNs, detecting patients with advanced disease, and ensuring early referral to a specialist center. It improved early detection and referral of high risk, poorly controlled patients and had an impact on PHCNs' knowledge. Its weaknesses include poor follow up due to poor existing health systems and the programs' inability to integrate into existing chronic disease services. The study also revealed an overworked, poorly supported, poorly educated and frustrated primary health care team.

Background: There is strong anecdotal evidence that many urban communities in Sub-Saharan Africa are in epidemiologic transition with the subsequent emergence of more affluent causes of heart disease. However, data to describe the risk factor profile of affected communities is limited., Methods: During 9 community screening days undertaken in the predominantly Black African community of Soweto, South Africa (population 1 to 1.5 million) in 2006-2007, we examined the cardiovascular risk factor profile of volunteers. Screening comprised a combination of self-reported history and a clinical assessment that included calculation of body mass index (BMI), blood pressure and random blood glucose and total cholesterol levels., Results: In total, we screened a total of 1691 subjects (representing almost 0.2% of the total population). The majority (99%) were Black African, there were more women (65%) than men and the mean age was 46+/-14 years. Overall, 78% of subjects were found to have >or=1 major risk factor for heart disease. By far the most prevalent risk factor overall was obesity (43%) with significantly more obese women than men (23% versus 55%: OR 1.76 95% CI 1.62 to 1.91: p<0.001). A further 33% of subjects had high blood pressures (systolic or diastolic) and 13% an elevated (non-fasting) total blood cholesterol level: no statistically significant differences between the sexes were found. There was a positive correlation between increasing BMI and other risk factors including elevated systolic (r(2)=0.046, p<0.001) and diastolic blood pressure (r(2)=0.032, p<0.001) with overweight subjects three times more likely to have concurrent hypercholesterolemia (OR 3.3, 95% CI 2.1 to 5.3: p<0.01)., Conclusions: These unique pilot data strongly suggest a high prevalence of related risk factors for heart disease in this urban black African population in epidemiologic transition. Further research is needed to confirm our findings and to determine their true causes and potential consequences.

Background: The prevalence of chronic kidney disease is on the rise. Our objective is to describe two programs to improve the awareness and management of hypertension, renal disease, and diabetes in remote Australian Aboriginal and urban and periurban South African communities. We focus on how the Australian Aboriginal and South African Chronic Disease Outreach Programs have worked together., Methods: The establishment of prevention programs in developing countries is a challenge. The paper evaluates these challenges, including accessing international aid. The programs advocate that regular integrated checks for chronic disease and their risk factors are essential elements of regular adult health care. Programs should be run by primary health workers, following algorithms for testing and treatment, and a backup provided by nurse coordinators. Constant evaluation is essential to develop community health profiles and adapt program structure., Results: Both programs are discussed, including how they are organized to deliver preventative and treatment strategies. The challenges and adaptations required are outlined., Conclusions: It is the aim of the international kidney community to prevent chronic kidney disease. The South African and Australian groups highlight the need for a systematic and sustained approach to the management of chronic diseases to achieve this goal., (Copyright 2006 S. Karger AG, Basel.)

Metastatic calcification associated with renal failure is well described. Bone scanning agents accumulate to various degrees within extraskeletal sites of metastatic calcification. The authors describe a patient with polycystic kidney disease resulting in renal failure, with the subsequent development of secondary hyperparathyroidism and metastatic calcification. Bone scintigraphy revealed abnormal uptake in both lungs, the right leg, and the right hand.