PDF(Pubmed)
Abstract：
UNASSIGNED: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital.
UNASSIGNED: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children.
UNASSIGNED: Retrospective observational study.
UNASSIGNED: All patients diagnosed with HT1 at Shifa International Hospital, Islamabad and Pak Emirates Military Hospital, Rawalpindi between 2010 and 2023 were included. Information was collected regarding age, gender, symptoms, physical signs, and laboratory results.
UNASSIGNED: The study identified 6 cases of HT1. The average age at presentation was 8 months, with a mean delay in diagnosis of 26.8 months. Males were 4 (66.7%) and 2 (33.3%) were females. All patients had underlying liver disease presenting as abdominal distension with hepatosplenomegaly and accompanying growth failure. Four cases presented with rickets, 2 of which had hypophosphatemic rickets. Urine for succinylacetone was raised in all patients. Alpha fetoprotein was raised but hepatocellular carcinoma was diagnosed in 1 patient only. Low protein diet, and vitamin supplements were used for management. Five of the 6 patients died within 2 years of diagnosis.
UNASSIGNED: Delayed referrals and unavailability of Nitisinone are the major challenges in diagnosing and treating HT1 in Pakistan.
UNASSIGNED: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children.
UNASSIGNED: Retrospective observational study.
UNASSIGNED: All patients diagnosed with HT1 at Shifa International Hospital, Islamabad and Pak Emirates Military Hospital, Rawalpindi between 2010 and 2023 were included. Information was collected regarding age, gender, symptoms, physical signs, and laboratory results.
UNASSIGNED: The study identified 6 cases of HT1. The average age at presentation was 8 months, with a mean delay in diagnosis of 26.8 months. Males were 4 (66.7%) and 2 (33.3%) were females. All patients had underlying liver disease presenting as abdominal distension with hepatosplenomegaly and accompanying growth failure. Four cases presented with rickets, 2 of which had hypophosphatemic rickets. Urine for succinylacetone was raised in all patients. Alpha fetoprotein was raised but hepatocellular carcinoma was diagnosed in 1 patient only. Low protein diet, and vitamin supplements were used for management. Five of the 6 patients died within 2 years of diagnosis.
UNASSIGNED: Delayed referrals and unavailability of Nitisinone are the major challenges in diagnosing and treating HT1 in Pakistan.
摘要：
■遗传性酪氨酸血症1型（HT1），一种罕见的常染色体隐性代谢紊乱,源于富马酸乙酰乙酸（FAH）酶缺乏症，导致有毒代谢物积聚。它表现为急性，亚急性，和慢性形式，早期诊断和Nitisinone治疗至关重要。
■该研究旨在强调一组巴基斯坦儿童中1型遗传性酪氨酸血症的不同临床表现。
■回顾性观察性研究。
■在Shifa国际医院诊断为HT1的所有患者，伊斯兰堡和巴基斯坦酋长医院，包括2010年至2023年的拉瓦尔品第。收集了关于年龄的信息，性别,症状,身体体征,和实验室结果。
■该研究确定了6例HT1。演示时的平均年龄为8个月，平均延迟诊断26.8个月。男性为4（66.7％），女性为2（33.3％）。所有患者均患有潜在的肝病，表现为腹胀伴肝脾肿大并伴有生长障碍。有四例病，其中2例患有低磷酸盐血症性软骨病。所有患者的尿中琥珀酰丙酮升高。甲胎蛋白升高，但仅1例患者诊断为肝细胞癌。低蛋白饮食,和维生素补充剂用于管理。6例患者中有5例在诊断后2年内死亡。
■Nitisinone的延迟转诊和不可用是巴基斯坦HT1诊断和治疗的主要挑战。
■该研究旨在强调一组巴基斯坦儿童中1型遗传性酪氨酸血症的不同临床表现。
■回顾性观察性研究。
■在Shifa国际医院诊断为HT1的所有患者，伊斯兰堡和巴基斯坦酋长医院，包括2010年至2023年的拉瓦尔品第。收集了关于年龄的信息，性别,症状,身体体征,和实验室结果。
■该研究确定了6例HT1。演示时的平均年龄为8个月，平均延迟诊断26.8个月。男性为4（66.7％），女性为2（33.3％）。所有患者均患有潜在的肝病，表现为腹胀伴肝脾肿大并伴有生长障碍。有四例病，其中2例患有低磷酸盐血症性软骨病。所有患者的尿中琥珀酰丙酮升高。甲胎蛋白升高，但仅1例患者诊断为肝细胞癌。低蛋白饮食,和维生素补充剂用于管理。6例患者中有5例在诊断后2年内死亡。
■Nitisinone的延迟转诊和不可用是巴基斯坦HT1诊断和治疗的主要挑战。
