Nephrolithiasis in identical twins: the impact of nature vs nurture

In a unique paper from the USA, authors look at the interplay between environmental, genetic and anatomical factors in the development of kidney stones. They suggest that additional controlled studies of monozygotic stone‐forming twins are required for further elaboration of this interaction. OBJECTIVE To assess possible underlying metabolic abnormalities in three sets of monozygotic twins, to evaluate the interplay among the factors of kidney stone formation, a complex multifactorial process influenced by environmental, genetic and anatomical factors. PATIENTS AND METHODS Three sets of identical twins with either cystine or calcium oxalate stones were identified. Demographic data, medical histories and the results of 24‐h urine testing, with samples collected on self‐selected diets, were reviewed and analysed. RESULTS The cystinuric twins had very similar cystine excretion rates, while stone activity was significantly more pronounced in one. Metabolic abnormalities were concordant in one set of twins with calcium oxalate stones, both being hypercalciuric and hyperuricosuric. However, metabolic abnormalities were discordant in the other pair, one twin with hypercalciuria and the other with hypocitraturia. Two of the three pairs had low urinary volume. CONCLUSIONS These results support previous observations that environmental, genetic and potentially, anatomical factors play roles in kidney‐stone formation. Additional controlled studies of monozygotic stone‐forming twins might help to define the interplay between environmental and genetic factors, and allow the identification of susceptibility genes involved in stone generation.