Renal failure, mental retardation and eponymous confusion

Hereditary renal failure includes a wide spectrum of diseases, ranging from the well-known autosomal-dominant polycystic kidney disease (ADPKD) to rare syndromes. The latter group includes a broad variety of diseases, often with a whole host of extra-renal manifestations. Many of these syndromes are little known among adult nephrologists, be it simply because they are rare, or due to the fact that their names are difficult to remember. Most of these rare hereditary disorders carry an eponym, and it is not uncommon to see several people immortalized in the name of a single disease. Finally, several different eponyms may be in concurrent use, despite the fact that a pathogenetic or genetic classification is already available. Knowledge of these rare genetic syndromes may help in clinical practice, and criteria for a clinical diagnosis often exist. Using these criteria, the clinician can frequently make an instant clinical diagnosis, which may have profound implications for clinical management as well as for the relatives of the patient and lead to genetic testing, if appropriate. One may argue that this is more or less the business of paediatricians and paediatric nephrologists but that is not entirely true. Some of these patients may attend adult renal clinics for years or even decades [1] under the label of ‘chronic renal failure’, until the correct diagnosis is made, often by someone who has encountered the disease before. Furthermore, all of these patients grow older and adult nephrologists may encounter them on dialysis, for transplant evaluation or post-transplant care. We present two cases of the same hereditary renal disease with many ‘extra-renal’ symptoms and with considerable eponymous confusion. We discuss clinical features, diagnostic approach and pathogenesis of this disorder. We also provide some insight into the biographies of the four people whose names are immortalized in the eponyms under discussion. Cases