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Conorenal syndrome
Conorenal syndrome, also called Mainzer-Saldino syndrome or Saldino-Mainzer disease, is a collection of medical conditions that seem to have a common genetic cause.
==History==
The syndrome was originally characterized during 1970 by Mainzer, et al., in a paper published in the American Journal of Medicine. In 1979, Giedion named the syndrome "conorenal syndrome" after a study of eight children. The children had chronic renal failure and the epiphyses of their fingers were cone-shaped and protruded into the metaphysis; some also had retinitis pigmentosa (also called RP, a progressive degeneration of the retina which affects night vision and peripheral vision) or ataxia (an inability to coordinate muscular movements). In 1995, a group led by Mendley studied two siblings and determined that renal histopathologic (features that can be identified in the laboratory) and clinical features of a primarily glomerular disorder (a kidney disorder involving the glomeruli, or clusters of blood vessels that act as filters in the kidney) were features of the syndrome. A recent article by Beals and Weleber (2007) also noted that a majority of patients also have small capital femoral epiphyses (the very tops of the femur where it hits the hip socket ) and/or mild abnormalities of the promixal femoral metaphysis.
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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