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Ardalan–Shoja–Kiuru syndrome
Ardalan–Shoja–Kiuru syndrome is a clinical syndrome featuring hereditary gelsolin amyloidosis and retinitis pigmentosa.〔Shokouhi G. and H. T. Khosroshahi. (2008) Ardalan–Shoja–Kiuru syndrome – hereditary gelsolin amyloidosis plus retinitis pigmentosa. ''Nephrol Dial Transplant'' 23(3):1071.〕 This syndrome was first recognized by two Iranian physicians, Mohammad Ardalan and Mohammadali Shoja and Finnish neurologist Sari Kiuru-Enari in an Iranian family.〔Ardalan M. R., M. M. Shoja, and S. Kiuru-Enari. (2007) Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East. ''Nephrol Dial Transplant'' 22(1):272–5.〕 Hereditary gelsolin amyloidosis has originally been reported by Finnish ophthalmologist Jouko Meretoja and is known as Meretoja syndrome or Familial Amyloidosis, Finnish type.〔Kiuru S. (1998) Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. ''Amyloid''. 5(1):55–66.〕 In addition to the classic manifestations of Finnish type Familial Amyloidosis, cutis laxa, progressive peripheral neuropathy and corneal lattice dystrophy, some of the afflicted members of the Iranian family have retinitis pigmentosa.〔〔 This feature had not been previously reported with this type of amyloidosis. Ardalan–Shoja–Kiuru syndrome or hereditary gelsolin amyloidosis plus retintis pigmentosa has not been found outside this single Iranian family.〔
== References ==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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