Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a 'Celebesian' family. A case of crippling gout associated with haematological disorders
van Herwaarden, C.L.; van der Korst, J.K.; Boerbooms, A.M.; de Bruyn, C.H.; Oei, T.L.
Netherlands Journal of Medicine 19(6): 272-278
1976
ISSN/ISBN: 0300-2977 PMID: 1004669 Document Number: 100564
Partial hypoxanthine-guanine phosphoribosyltransferase [HG-PRT] deficiency was established in 2 brothers of mixed Indonesian-Dutch extraction. One patient developed crippling gout and diminished renal function from age 17. The disease was associated with hematological disorders, i.e., initially anemia and thrombocytosis, later followed by relative polycythemia and diminished plasma volume during several years of treatment. During the aggressive gouty arthritis state, serum acid phosphatase activity was markedly increased. In the other patient nephrolithiasis was observed, due to the increased urinary uric acid load in HG-PRT deficiency. Hair root analysis of the female members of this family indicated the mother and all 5 sisters to be heterozygous carriers of this X-linked recessive disorder. Since the mother was of pure Celebesian extraction, this family seems to be the 1st Indonesian sibship with HG-PRT deficiency.