[Clinical polymorphism in respiratory oxalosis].
OBJECTIVE
Examination of clinical polymorphism of chronic obstructive pulmonary diseases (COPD) in defects of oxalate metabolism to make diagnostic outpatient screening of the preclinical stage.


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.


CONCLUSIONS
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.
Pospekhova
G P
GP
Antonov
V G
VG
Razorenova
T S
TS
Vakharlovskiĭ
V G
VG
D000328:Adult; D002151:Calorimetry; D003937:Diagnosis, Differential; D005260:Female; D005819:Genetic Markers; D006801:Humans; D006959:Hyperoxaluria / Q000175:diagnosis / Q000235:genetics*; D008173:Lung Diseases, Obstructive / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010070:Oxalates / Q000378:metabolism*; D011110:Polymorphism, Genetic; D013997:Time Factors
D005819:Genetic Markers; D010070:Oxalates