Nephrolithiasis is a condition in which urinary supersaturation leads to stone formation in the urinary system. It is a major health problem and its prevalence has significantly increased among children over the last decades. It is a multifactorial disease involving environmental, physiological, and genetic factors. Nephrolithiasis is genetically heterogenous, and mutations in at least 30 genes have been linked to this disorder. Recently, it has been reported that mutations in SLC26A1 cause a recessive form of calcium oxalate urolithiasis.
Category
Urinary system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
Diseases of the urinary system
Urolithiasis
GB70 Calculus of upper urinary tract
H02145 Calcium oxalate nephrolithiasis
Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F
Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schonauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F
Title
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
