Abstract
Wolcott-Rallison syndrome (WRS) is a rare genetic disorder, diagnosed with transient/permanent neo-natal insulin-dependent diabetes mellitus (IDDM). Infants are primarily diagnosed with the onset of diabetes mellitus followed by a propensity for skeletal dysplasia, liver dysfunction, pancreatic hypoplasia, renal dysfunction, mental retardation, seizures, stenosis, and glycosuria. Unfortunately, regardless of the symptoms or poor prognosis, most of the infants could not survive beyond two years, and those who survived do not live a quality life before death. However, despite these clinical complications, clinical intervention at a right time can contribute to prolonged life expectancy. The transplantation of vital organs (liver, pancreas and kidneys) could help in recovering from the complications quickly. The aim of this narrative review is to summarize the mutations of eukaryotic translation initiation factor 2 – alpha kinase 3 (EIF2AK3) associated with the syndrome, clinical complications associated with various body systems, and to discuss the treatment strategies, challenges and future prospects associated with WRS. We propose that the gene EIF2AK3 should be included in the list of expanded carrier screening of consanguineous parents or predominant marriages within the population.
Recommended Citation
Madasu, Pavan K.; Burande, Durga Ashok; Ulaganathan, Nivedhitha; and Chandran, Thyageshwar
(2025)
"Clinical Complications and Management Strategies for Wolcott-Rallison Syndrome,"
Journal of Pediatric Genetics: Vol. 14:
Iss.
3, Article 1.
DOI: https://doi.org/10.53391/2146-460X.1019
Available at:
https://jpg.researchcommons.org/journal/vol14/iss3/1