NDT Advance Access originally published online on September 24, 2007
Nephrology Dialysis Transplantation 2008 23(3):1071-1072; doi:10.1093/ndt/gfm586
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Reply
E-mail: ardalanm{at}tbzmed.ac.irSir,
We are grateful to Dr Shokouhi and Dr Khosroshahi for their kind comments and supportive inspiration. Parallel to their notion, we must say that retinitis pigmentosa (RP) was one of the prominent and frequent findings in the Iranian family with gelsolin mutation [1,2]. Blindness in the affected members usually occurred in the fifth or sixth decade of life and was a major source of their psychosocial stress. When G654A gelsolin mutation was identified, we initially attributed the retinal changes to the direct toxicity of and/or perivascular deposition of amyloid fibrils [2]. However, such finding had not been reported previously. In a review of literature, we went through the report of an Irish family with autosomal dominant RP and sensorineural hearing loss, in which the mutant gene was located at chromosome 9q34-ter [3], just following the locus for the mutant gelsolin gene. Interestingly, one of the Iranian patients with RP simultaneously had a sensorineural hearing loss [2]. Thus, we appreciate the proposal of Dr Shokouhi and Dr Khosroshahi that a co-mutation and new syndrome may be present. Presently, we are trying to set a project on the genetic aspects of this syndrome.
In modern days and especially in developing countries, patients with rare diseases are usually left undiagnosed for a long time, thus losing their chance for a cure. Therefore, it seems that a foundation specializing in rare diseases, adopting a systematic approach to both psychological and medical aspects of diseases, would help. Such a foundation could not only provide appropriate services for patients with rare diseases (who may need diagnostic tests or therapeutic interventions from remote international agencies), it would also provide an excellent opportunity for innovating new therapeutic measures. Recognition of the Iranian family with hereditary gelsolin amyloidosis plus RP underscores the necessity for such a foundation in this country.
Conflict of interest statement. None declared.
1 Department of Nephrology, Tabriz Medical University, Tabriz 2 Tuberculosis and Lung Disease Research Center, Tabriz Medical University, Tabriz
References
- Ardalan MR, Shoja MM, Kiuru-Enari S. Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East. Nephrol Dial Transplant (2007) 22:272–275.
[Free Full Text] - Ardalan MR, Shoja MM, Paunio T, et al. Hereditary gelsolin amyloidosis in Iran. In: XIth International Symposium on Amyloidosis—Skinner M, et al, eds. (2007) USA: CRC Press.
- Kenna P, Mansergh F, Millington-Ward S, et al. Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness. Br J Ophthalmol (1997) 81:207–213.
[Abstract/Free Full Text]
CiteULike 
Connotea 
Del.icio.us What's this?
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||