Autoimmune Renal Calcium and Magnesium Wasting

摘要

Rare monogenic disorders affecting the kidney are commonly considered a domain of the pediatric rather than the adult nephrologist. That this simple assumption falls short is illustrated by an increasing number of patients with rare inherited disorders diagnosed during infancy or childhood who now reach adult age, and by patients who are diagnosed late in adolescence or adulthood with an "atypical" or milder clinical course. In order to decipher and diagnose a yet unidentified rare disease, physicians and researchers have to rely on an in-depth study of a small cohort of affected individuals or even of a single patient. Unfortunately, multi-omic approaches are increasingly replacing thorough clinical evaluation and judgment rather than complementing hypothesis-driven targeted laboratory studies.