Some observations on genetic factors in urolithiasis.
In an attempt to detect genetic factors linked with urolithiasis, a study based on medical and genetic data and on several biochemical procedures was done on 50 stone formers and on 50 controls. Genetic factors likely to be related to stone forming were found in 4 patients: 2 cases of incomplete renal tubular acidosis, and 2 cases of heterozygous cystinuria. A study of the families of 3 of these individuals revealed 4 additional cases of genetically determined metabolic diseases. Despite the small number of patients for whom genetic factors were determined and the fact that the lithiasis cases with and without family recurrence showed similar behavior with respect to the different biochemical parameters studied, the presence of genetic factors is suggested by the significantly more frequent family history of lithiasis found for stone formers than for the controls. Identifying the cases with family recurrence, in which stone formation occurs earlier and is more frequently recurrent, and the stone-forming patients with genetically determined metabolic disorders, which may benefit from specific measures, will probably contribute to a better prognosis for these patients.
D000141:Acidosis, Renal Tubular / Q000150:complications / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001774:Blood Chemical Analysis; D002648:Child; D003555:Cystinuria / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D010070:Oxalates / Q000652:urine; D014545:Urinary Calculi / Q000150:complications / Q000235:genetics* / Q000652:urine
D010070:Oxalates