Publications
Rare Kidney Diseases: Children Being Left Out in the Cold
Iyengar A, Lanewala AA, Shirol PB, Pais P Rare or orphan kidney diseases are a complex group of disorders characterized by low prevalence, resulting from a genetic or metabolic etiology leading to chronic debilitation, morbidity, or death. A disease is recognized as rare by the World Health Organization if one among 1000 individuals is affected. With more than 150 rare kidney diseases identified, a majority seen in childhood, the burden of 60–80 cases per 100,000 population has been observed in Europe and the United States.1,2 A position statement from Southern Africa reports one in 15 people to have a rare disease and provides policies on health care services for rare diseases.3 A policy call to address the challenges hindering the provision of targeted care for rare kidney diseases has been recently published.4 The European Renal Association-European Dialysis and Transplantation Association registry reveals that every three out of five children undergoing KRT suffer from kidney failure due to a rare kidney disease.5 The burden of rare kidney diseases in low middle-income countries (LMICs), consisting of about 132 countries, is not well reported. In our experience, rare kidney diseases contribute to a similar proportion of children with kidney failure and underscores the fact that rare kidney diseases are not so rare after all (Box 1).
