Pediatric Nephrology Division, Department of Child Health, Faculty of Medicine, Cipto Mangunkusumo Hospital, University of Indonesia, Central Jakarta, Indonesia.
Pediatric Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia.
Ren Fail. 2020 Nov;42(1):113-121. doi: 10.1080/0886022X.2020.1713805.
Lesch-Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia. A 15-year-old male who had been diagnosed with cerebral palsy was referred to our hospital due to renal failure requiring emergency dialysis. The patient presented with three classic manifestations of LND: increased uric acid levels, neurological disorders, and self-injurious behaviors. LND was suspected because of an abscess-like lump on the left ankle that was confirmed to be a tophus, which had burst and discharged thick masses containing blood, debris, and white crystal materials. The diagnosis of LND was confirmed by the presence of a deletion to exon 1 of the HPRT1 gene. The patient received oral allopurinol daily and treatment for end-stage renal disease (ESRD), which included regular dialysis and subcutaneous administration of erythropoietin. At a 2-month follow-up, he improved clinically with a 71% decrease in uric acid levels after regular dialysis and allopurinol treatment. In developed countries, LND can be diagnosed as early as 3 days after birth. However, diagnosis in the present case was delayed due to the rarity of the disease and the limited number of facilities in Indonesia that offer genetic counseling. Late diagnosis of LND leads to ESRD and irreversible abnormalities. This is the first case of LND presenting with a unique clinical presentation of tophus burst reported in Indonesia.
莱施-尼汉综合征（Lesch-Nyhan disease，LND）是一种罕见的 X 连锁隐性遗传性嘌呤代谢缺陷病。LND 的晚期诊断可能导致严重的发病率。印度尼西亚从未报告过 LND 病例。一名 15 岁的男性因脑瘫被转诊至我院，因肾衰竭需要紧急透析。该患者有 LND 的三个典型表现：尿酸水平升高、神经障碍和自残行为。由于左踝关节有脓肿样肿块，怀疑为 LND，该肿块被确认为痛风石，已经破裂并排出了含有血液、碎片和白色结晶物质的浓稠物质。HPRT1 基因外显子 1 缺失证实了 LND 的诊断。患者接受了每日口服别嘌呤醇和终末期肾病（end-stage renal disease，ESRD）的治疗，包括定期透析和皮下注射促红细胞生成素。在 2 个月的随访中，他的临床状况有所改善，定期透析和别嘌呤醇治疗后尿酸水平下降了 71%。在发达国家，LND 可以在出生后 3 天内确诊。然而，由于该疾病的罕见性和印度尼西亚提供遗传咨询的机构数量有限，导致本病例的诊断被延迟。LND 的晚期诊断会导致 ESRD 和不可逆转的异常。这是印度尼西亚首例报告的以痛风石破裂为独特临床表现的 LND 病例。
