Research progress on renal calculus associate with inborn error of metabolism.
10.3724/zdxbyxb-2022-0698
- Author:
Yuanming SONG
1
;
Changyong ZHAO
2
;
Daobing LI
3
Author Information
1. Department of Urology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China. sym2283375027@163.com.
2. Department of Urology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China.
3. Department of Urology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China. lidaobing6080@163.com.
- Publication Type:Journal Article
- Keywords:
Gene;
Inborn error of metabolism;
Renal calculus;
Review
- MeSH:
Infant;
Humans;
Hypercalciuria/genetics*;
Kidney Calculi/genetics*;
Urolithiasis/genetics*;
Nephrocalcinosis/genetics*;
Metabolism, Inborn Errors/genetics*
- From:
Journal of Zhejiang University. Medical sciences
2023;52(2):169-177
- CountryChina
- Language:English
-
Abstract:
Renal calculus is a common disease with complex etiology and high recurrence rate. Recent studies have revealed that gene mutations may lead to metabolic defects which are associated with the formation of renal calculus, and single gene mutation is involved in relative high proportion of renal calculus. Gene mutations cause changes in enzyme function, metabolic pathway, ion transport, and receptor sensitivity, causing defects in oxalic acid metabolism, cystine metabolism, calcium ion metabolism, or purine metabolism, which may lead to the formation of renal calculus. The hereditary conditions associated with renal calculus include primary hyperoxaluria, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, Bartter syndrome, primary distal renal tubular acidosis, infant hypercalcemia, hereditary hypophosphatemic rickets with hypercalciuria, adenine phosphoribosyltransferase deficiency, hypoxanthine-guanine phosphoribosyltransferase deficiency, and hereditary xanthinuria. This article reviews the research progress on renal calculus associated with inborn error of metabolism, to provide reference for early screening, diagnosis, treatment, prevention and recurrence of renal calculus.
