Thalagahage Krishan Nilantha Hewa, Jayaweera Jayaweera Arachchige Asela Sampath, Kumbukgolla Wikum Widuranga, Senavirathne Indika
Department of Paediatrics, Teaching Hospital, Anuradhapura, Sri Lanka.
Department of Microbiology, Faculty of Medicine and Allied Sciences, Rajarata University, Anuradhapura, Sri Lanka.
BMJ Case Rep. 2015 May 8;2015:bcr2014208505. doi: 10.1136/bcr-2014-208505.
Alkaptonuria is a rare disorder that results from an inherited deficiency of aromatic amino acid metabolism. Only 21% of the children under the age of 1 year having the disease are identified in clinics. We report a case of a 1-week-old child of a first-degree consanguineous couple with a symptom of frequent nappy staining. Analysis of urine showed a homogentisic acid concentration exceeding 200 mg/dL. The physical examination revealed that the child was healthy. The parents' watchfulness and the close attention paid to the child were the keys to the early detection of this rare disease. After identifying the disease, adequate follow-up of the patient is important to reduce further complications. Anti-inflammatory therapy and increasing the muscle strength by exercises such as swimming would be useful to restrict joint pains and immobilisation. A low protein diet also could be recommended; that fact is yet to be proven by clinical trials.
黑尿症是一种罕见的疾病，由遗传性芳香族氨基酸代谢缺陷引起。在临床中，1岁以下患有该疾病的儿童仅有21%被确诊。我们报告了一例1周大的一级近亲结婚夫妇的孩子，该患儿有频繁尿布染色的症状。尿液分析显示尿黑酸浓度超过200mg/dL。体格检查表明该患儿健康。父母的警觉性以及对孩子的密切关注是早期发现这种罕见疾病的关键。确诊疾病后，对患者进行充分的随访对于减少进一步的并发症很重要。抗炎治疗以及通过游泳等运动增强肌肉力量，对于限制关节疼痛和活动受限可能有用。也可建议采用低蛋白饮食；这一事实尚有待临床试验证实。
