Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.

CONCLUSIONS: We report the clinical and molecular characteristics of dRTA patients from China. The four novel mutations detected in our study extend the spectrum of gene mutations associated with primary dRTA. Furthermore, our study confirms the effect of early treatment in improving growth for dRTA patient and provides insight into the effects of rhGH on dRTA patients who were diagnosed late and exhibiting a persistent growth delay despite appropriate therapy. PMID: 30230413 [PubMed - in process]
Source: Renal Failure - Category: Urology & Nephrology Tags: Ren Fail Source Type: research