A “sum of rarities”
Their prevalence is distinctly lower than 1 in 2000 and the majority of cases have orphan disease status. They can be grouped into 5 categories, which are then divided into several syndromes
- Hereditary glomerulopathies: particularly steroid-resistant nephrotic syndrome, Alport’s Syndrome
- Renal dysplasias and cystic diseases: nephronophthisis and polycystic diseases
- Metabolic diseases affecting the kidneys: cystinosis, cystinuria, Fabry disease
- Tubular dysgeneses
- Hereditary tubulopathies: nephrogenic diabetes insipidus, acidosis, monogenic forms of arterial hypertension.