Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.

ABSTRACT: Kidney stone disease is an increasingly prevalent condition with remarkable clinical heterogeneity, with regards to stone composition, age of manifestation, rate of recurrence, and impairment of kidney function. Calcium-based kidney stones account for the vast majority of cases, but their etiology is poorly understood, notably their genetic drivers. As recent studies indicate, hereditary conditions are most likely underestimated in prevalence, and new disease genes are constantly being identified. As a consequence, there is an urgent need of a more efficient documentation and collection of cases with underlying hereditary conditions, to better understand shared phenotypic presentation and common molecular mechanisms. By implementation of a centralized patient registry on hereditary kidney

SUBMITTER: Halbritter J 

PROVIDER: S-EPMC5850730 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature