Case study on wolfram syndrome-(didmoad)

Tarun Gedda; Pavani Vuriviti; Sai Lavanya Kanuri; SaijyothiPoojitha Doddi; Upendra Pyla; Bhargavi Baddem

doi:10.37022/jcscr.v2i1.406

Gedda Tarun Pharm.D, Department of Pharmacy Practice, Avanthi Institute Pharmaceutical Sciences, Vizianagaram
Vuriviti Pavani Pharm.D, Department of Pharmacy Practice, Avanthi Institute Pharmaceutical Sciences, Vizianagaram.
Kanuri Sai Lavanya Pharm.D, Department of Pharmacy Practice, Avanthi Institute Pharmaceutical Sciences, Vizianagaram.
Doddi Saijyothi Poojitha Pharm.D, Department of Pharmacy Practice, Avanthi Institute Pharmaceutical Sciences, Vizianagaram.
Pyla Upendra Pharm.D, Department of Pharmacy Practice, Avanthi Institute Pharmaceutical Sciences, Vizianagaram.
Baddem Bhargavi Clinical Research Coordinator, Actimus Bio-Vizag

DOI https://doi.org/10.37022/jcscr.v2i1.406

Abstract

Wolfram Syndrome is a rare autosomal recessive genetic disorder it is a condition which is characterised by childhood onset of Diabetes mellitus, Diabetes insipidus, Optic atrophy and deafness also known as DIDMOAD Syndrome. This is an inherited condition which is mainly caused due to mitochondrial dysfunction. The mutation of WFS1 gene gets implicated in endoplasmic reticulum. A wolfram gene has recently been mapped to chromosome 4p 16.1. The best available diagnosis is childhood onset diabetes mellitus and optic atrophy. This disorder mainly affects the central nervous system. The pathogenesis is unknown. This review seeks to raise awareness of this rare case. A woman of 21years was evaluated for diabetes mellitus on following up her condition it was found that she has wolfram syndrome. Researchers are investigating on the syndrome for cure of the treatment but at present the treatment can be done by reducing the symptoms by drug management therapy.

Keywords: Wolfram syndrome,, DIDMOAD, Diabetes mellitus, Diabetes insipidus, Optical atrophy, Deafness, Autosomal recessive, WFS-1 gene

References

.G. Barrett, S. E. Bundey and A. F. Macleod, “Neurogeneration and diabetes: UK Nation wide study of wolfram (DIDMOAD) Syndrome,” The Lancet, Vol. 346, no. 8988, pp. 1458-1463, 1995.
2. Wolfram D, wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Proc staff meet Mayo clin 1938; 13:715-18
3. https://www.ncbi.nlm.nih.gov › articles › PMC8949990
4. https://medlineplus.gov/genetics/condition/wolfram-syndrome/
5. https://www.diabetes.org.uk/diabetes-the-basics/other-types-of-diabetes/wolfram-syndrome
6. B. T. Kinsley, M. Swift, R. H. Dumont, and R. G. Swift, “Morbidity and mortality in the Wolfram syndrome,” Diabetes Care, vol. 18, no. 12, pp. 1566–1570, 1995.
7. R. Medlej, J. Wasson, P. Baz et al., “Diabetes mellitus and optic atrophy: A study of Wolfram syndrome in the Lebanese population,” The Journal of Clinical Endocrinology & Metabolism, vol. 89, no. 4, pp. 1656–1661, 2004
8. Chaussenot, S. Bannwarth, C. Rouzier et al., “Neurologic features and genotype-phenotype correlation in Wolfram syndrome,” Annals of Neurology, vol. 69, no. 3, pp. 501–508, 2011.
9. J. Stoy, E. L. Edghill, S. E. Flanagan et al., “Insulin gene mutations as a cause of permanent neonatal diabetes,” Proceedings of the National Acadamy of Sciences of the United States of America, vol. 104, no. 38, pp. 15040–15044, 2007.
10. Bespalova IN, Van Camp G, Bom SJ, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet. 2001;10(22):2501–8. doi: 10.1093/hmg/10.22.2501.
11. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346(8988):1458–63. Doi: 10.1016/S0140-6736(95)92473-