Ardalan–Shoja–Kiuru syndrome

Ardalan–Shoja–Kiuru syndrome is a clinical syndrome featuring hereditary gelsolin amyloidosis and retinitis pigmentosa.[1][2] This syndrome was first recognized by two Iranian physicians, Mohammad Ardalan and Mohammadali Shoja and Finnish neurologist Sari Kiuru-Enari in an Iranian family.[3] Hereditary gelsolin amyloidosis has originally been reported by Finnish ophthalmologist Jouko Meretoja and is known as Meretoja syndrome or Familial Amyloidosis, Finnish type.[4] In addition to the classic manifestations of Finnish type Familial Amyloidosis, cutis laxa, progressive peripheral neuropathy and corneal lattice dystrophy, some of the affected members of the Iranian family have retinitis pigmentosa.[2][3] This feature had not been previously reported with this type of amyloidosis. Ardalan–Shoja–Kiuru syndrome or hereditary gelsolin amyloidosis plus retinitis pigmentosa has not been found outside this single Iranian family.[3]

Ardalan–Shoja–Kiuru syndrome
SpecialtyOphthalmology

References
  1. Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins". Cytoskeleton. 70 (11): 775–95. doi:10.1002/cm.21149. PMID 24155256. S2CID 205643538.
  2. Shokouhi G. and H. T. Khosroshahi. (2008) Ardalan–Shoja–Kiuru syndrome – hereditary gelsolin amyloidosis plus retinitis pigmentosa. Nephrol Dial Transplant 23(3):1071.
  3. 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.
  4. Kiuru S. (1998) Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid. 5(1):55–66.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.