Deficyt fosforybozylotransferazy hipoksantynoguaninowej - Kliniczna, biochemiczna oraz molekularna charakterystyka pacjentów

Introduction: The deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) is an inborn error of metabolism, inherited in an X-linked recessive manner. The defect causes three overlapping clinical syndromes, depending on the amount of residual enzyme activity: Lesch-Nyhan disease (LND), Lesch-Nyhan syndrome without self-mutilation (HRND) and Kelley-Seegmiller syndrome (KKS). Aim of the study: The description of clinical, biochemical and molecular features in Polish patients with HPRT deficiency recognized since year 1977 till 2007. Material and methods: We describe clinical, biochemical and molecular characteristics of 19 children. Enzymatic and molecular analyses were used to verify the diagnosis. Results: Classical LND was recognised in 17 patients and KKS in 2 patients. Conclusions: LND should be recognised during the first year of life. Therefore, serum and urine uric acid determinations should be included in the differential diagnosis of cerebral palsy, hypotony, nephrolithiasis and nephropathy. A diagnosis of LND is likely to be made when all the classic neurological features and hyperuricaemia are present in a boy with no history of perinatal illness. In situations where self-mutilative behaviour is absent or uric acid concentrations are within normal limits, the disease can be easily misdiagnosed. Therefore, it is recommended that a diagnosis of HPRT deficiency should be ruled out in all male patients said to have cerebral palsy or developmental delay as well as patients with gout or urate nephropathy developed before 20 year of life even if hyperuricemia is absent.