AI Article Synopsis
- Wolcott-Rallison syndrome is a rare genetic disorder characterized by neonatal diabetes and various health complications, including liver impairment and growth issues, with a significant impact on patient survival rates.
- A review of 62 studies involving 159 patients revealed a median age of presentation at 2.5 months and an average age of death at 36 months, with liver failure being a primary cause of mortality in some cases.
- Transplantation, especially liver or multi-organ transplants, notably improves survival outcomes, with better prognosis linked to specific genetic mutations (missense mutations).
Article Abstract
Background And Aims: To systematically review the literature for reports on Wolcott-Rallison syndrome, focusing on the spectrum and natural history, genotype-phenotype correlations, patient and native liver survival, and long-term outcomes.
Methods: PubMed, Livio, Google Scholar, Scopus and Web of Science databases were searched. Data on genotype, phenotype, therapy, cause of death and follow-up were extracted. Survival and correlation analyses were performed.
Results: Sixty-two studies with 159 patients met the inclusion criteria and additional 30 WRS individuals were collected by personal contact. The median age of presentation was 2.5 months (IQR 2) and of death was 36 months (IQR 50.75). The most frequent clinical feature was neonatal diabetes in all patients, followed by liver impairment in 73%, impaired growth in 72%, skeletal abnormalities in 59.8%, the nervous system in 37.6%, the kidney in 35.4%, insufficient haematopoiesis in 34.4%, hypothyroidism in 14.8% and exocrine pancreas insufficiency in 10.6%. Episodes of acute liver failure were frequently reported. Liver transplantation was performed in six, combined liver-pancreas in one and combined liver-pancreas-kidney transplantation in two individuals. Patient survival was significantly better in the transplant cohort (p = .0057). One-, five- and ten-year patient survival rates were 89.4%, 65.5% and 53.1%, respectively. Liver failure was reported as the leading cause of death in 17.9% of cases. Overall survival was better in individuals with missense mutations (p = .013).
Conclusion: Wolcott-Rallison syndrome has variable clinical courses. Overall survival is better in individuals with missense mutations. Liver- or multi-organ transplantation is a feasible treatment option to improve survival.
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Article Synopsis
- Wolcott-Rallison syndrome is a rare genetic disorder characterized by neonatal diabetes and various health complications, including liver impairment and growth issues, with a significant impact on patient survival rates.
- A review of 62 studies involving 159 patients revealed a median age of presentation at 2.5 months and an average age of death at 36 months, with liver failure being a primary cause of mortality in some cases.
- Transplantation, especially liver or multi-organ transplants, notably improves survival outcomes, with better prognosis linked to specific genetic mutations (missense mutations).
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