婴儿系统性透明变性：17年经验报告
Infantile Systemic Hyalinosis: Report of 17-year Experience.
作者信息
Raeeskarami Seyed Reza, Aghighi Yahya, Afshin Azadeh, Malek Abdolreza, Zamani Ali, Ziaee Vahid
机构信息
Department of Pediatrics, ; Valiye-Asr Hospital, Imam Hospital Complex, ; Pediatric Rheumatology Research Group, Rheumatology Research Center.
Department of Pediatrics, ; Valiye-Asr Hospital, Imam Hospital Complex.
出版信息
Iran J Pediatr. 2014 Dec;24(6):775-8. Epub 2014 Dec 9.
BACKGROUND
Infantile Systemic Hyalinosis (ISH) is a very rare autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in skin, gastrointestinal tract, muscles, glands and other organs.
CASES PRESENTATION
We report eight Iranian children (4 male and 4 female) with ISH referred to our hospital from 1996 to 2013. The illness had been diagnosed by clinical manifestations and disease progression. Six of them died and two are alive but very sick.
CONCLUSION
ISH is a very rare disorder with poor prognosis. Seventy five percent of our 8 patients died before 2 years old due to severe diarrhea, malabsorption and/or infection.
背景
婴儿系统性透明变性（ISH）是一种非常罕见的常染色体隐性疾病，其特征为结缔组织受累，表现为皮肤、胃肠道、肌肉、腺体及其他器官出现透明质沉积。
病例报告
我们报告了1996年至2013年转诊至我院的8例患有ISH的伊朗儿童（4男4女）。该疾病通过临床表现和疾病进展得以诊断。其中6例死亡，2例存活但病情严重。
结论
ISH是一种预后较差的罕见疾病。我们的8例患者中有75%在2岁前因严重腹泻、吸收不良和/或感染而死亡。
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