Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India

Korula, Sophy; Ravichandran, Lavanya; Paul, PraveenG; Johnson, Jabasteen; Chapla, Aaron; Santhanam, Sridhar; Strömberg, Anna; Mathai, Sarah

doi:10.4103/ijem.ijem_429_21

Cited by 7 publications

(1 citation statement)

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“…The study cohort comprises 159 individuals identified through a systematic literature search from 62 studies 4,5,7,17–75 (Figure 1) and an additional 30 individuals who were collected via contacting physicians and study authors (Supplemental Table S1). Additional follow‐up data were acquired on 11 individuals already reported 7,24–26,28,45 via direct contact with the original study authors.…”

Section: Resultsmentioning

confidence: 99%

Natural history of Wolcott‐Rallison syndrome: A systematic review and follow‐up study

Aldrian,

Bochdansky,

Kavallar

et al. 2024

Liver International

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Background and AimsTo 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.MethodsPubMed, 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.ResultsSixty‐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).ConclusionWolcott‐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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Section: Resultsmentioning

confidence: 99%