- 期刊
Lesch-Nyhan Syndrome: Report on Two Brothers
Lesch-Nyhan症候群－兩兄弟病例報告
摘要
Lesch-Nyhan症候群是一少見的性連隱性遺傳疾病，在臨床上表現尿酸過多及神經學異常包括智障、痙攣、舞蹈指痙症(choreoathetosis)及強迫性自殘行爲。此症乃由於次內嘌呤烏糞 呤磷酸基核苷轉移酶(hypoxanthine-guanine phosphoribosyltransferase, HPRT)之完全缺乏所造成的。本文待一家族內兩位HPRT缺乏之病例。第一位患童自出生三個月起就發現在尿布上有金黃色之結晶。從六個月大開始有神經運動發展遲緩的情形，他在一歲時至本院求診。外觀上，患童之生長及營養狀態均衡，且無關節異常或痛風石，神經學檢查方面，深部神經反射及肌肉力量是正常的，但有指痙症及神經運動發展遲緩。生化檢查有高尿酸血症(8.3mg/dl)。尿液常規檢查有血尿及尿酸結晶。腎臓超音波檢查並未發現異常。患童之紅血球次黃嘌呤烏糞嘌呤磷酸基核苷轉移酶活性極低(0.0547nmol/min/mg protein, 0.05% of control)；而其父母之次黃嘌呤烏煙花嘌呤磷酸基核苷轉移活性則是正常的。高尿酸轎症於接受allopurinol治療後改善，而神經運動發展遲緩則依然存在。患童的北北在克敵患童罹患此症後兩個月出生，弟弟在四十天大時小便也出現尿酸結晶，亦有高尿酸血症(10.6mg/dl)。其紅血球次典嘌呤烏糞嘌呤磷酸基核苷轉移酶活性極低(0.0327nmol/min/mg protein)，顯然亦罹患此症，之後在門診追蹤中亦出現神經運動發展遲緩。分子遺傳方面的研究正進行中，其結果將有助於遺傳諮詢及産前診斷。此症在中國人罕有報告，可能是尚未被診斷出來所致。
並列摘要
Lesch-Nyhan syndrome is a rare X-linked disease characterized by over-production of uric acid and a central nervous system (CNS) disorder consisting of mental retardation, spasticity, choreoathetosis, and a compulsive form of self-multilation. A deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT) provides the underlying metabolic basis for this disease. A 12 month-old male baby who had orange crystals over the diapers since he was 3 months old was brought to our hospital due to developmental delay. Mental retardation and athetosis were also noted. Chemical analysis revealed hyperuricemia (uric acid 8.6 mg/dl). Urine routine showed microscopic hematuria and uric acid crystals. The activity of HPRT in erythrocyte lysates of parents were both within normal limits, but that of the patient was very low (0.0547 nm/mm/mg protein, ＜0.05% of control). His younger brother was born 2 months after this disorder diagnosed in this patient. The younger brother was noted to have uric acid crystals over the diapers when he was 40 days old and hyperuricemia (10.6 mg/dl) showed up later. He was also a case of Lesch-Nyhan syndrome since the activity of HPRT in erythrocyte lysates was also low (0.0327 nmol/minlmg protein, ＜0.05% of control). Further studies, including carrier detection and deoxyribonucleic acid (DNA) analysis, could be helpful for genetic counseling. This syndrome is rare among Chinese, and this may be due to underdiagnosis.