Clinical polymorphism in respiratory oxalosis

[Article in Russian]

Pospekhova GP, Antonov VG, Razorenova TS, Vakharlovski VG.

AIM: Examination of clinical polymorphism of chronic obstructive pulmonary diseases (COPD) in defects of oxalate metabolism to make diagnostic outpatient screening of the preclinical stage.
MATERIAL AND METHODS: Diagnostic dysgenetic markers of respiratory oxalosis (RO)--red hair in monthers and 24-h oxaluria--were studied in 28 women and 7 men. 8 women (group 1) had diagnostic association, 7 women (group 2) had no hereditary marker, 13 women (group 3) had no signs of disturbed oxalate metabolism. In addition, families of group 1 patients were examined for preclinical signs of visceral oxalosis in close relatives (kinship degree I). A comparison was made of quantitative enzyme assay of registering 24-h oxaluria (Lartillot M. et Vogel G) and titration by G. A. Sivorinovsky.
RESULTS: Group 1 COPD patients with mild disease had rather high 24-h oxaluria. In group 2 and 3 patients oxaluria was significantly lower. Dysgenetic markers--24-h oxaluria with the hereditary criterium--may be used in differential diagnosis of RO with its phenocopy having a more severe course at preclinical stage. Male relatives of kinship degree I had significant differences with group 1 patients in 24-h oxaluria, oxaluria was combined with clinical symptoms of acid, uratic diathesis.
CONCLUSION: The enzyme assay of oxalate in 24-h urine in combination with hereditary marker is an adequate screening method for preclinical stage of RO. The presence of various clinical manifestations of visceral oxalosis--RO and acid, uratic diathesis in the family--may indicate clinical polymorphism of mutant gene.

PMID: 11417184 [PubMed - indexed for MEDLINE]