Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

Slingerland, Annabelle S.; Shields, Beverley M.; Flanagan, Sarah E.; Bruining, G. J.; Noordam, C.; Gach, Agnieszka; Młynarski, Wojciech; Małecki, Maciej T.; Hattersley, Andrew T.; Ellard, Sian

doi:10.1007/s00125-009-1416-6

Cited by 116 publications

(93 citation statements)

References 9 publications

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“…They might be improved by SU therapy, since K ATP channels are found in many tissues, including the brain and muscle (8,9), and play a role in membrane polarization and cell functions. Anecdotal case reports support this possibility (2,7,10).…”

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confidence: 94%

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

et al. 2015

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OBJECTIVENeonatal diabetes secondary to mutations in potassium-channel subunits is a rare disease but constitutes a paradigm for personalized genetics-based medicine, as replacing the historical treatment with insulin injections with oral sulfonylurea (SU) therapy has been proven beneficial. SU receptors are widely expressed in the brain, and we therefore evaluated potential effects of SU on neurodevelopmental parameters, which are known to be unresponsive to insulin. RESEARCH DESIGN AND METHODSWe conducted a prospective single-center study. Nineteen patients (15 boys aged 0.1-18.5 years) were switched from insulin to SU therapy. MRI was performed at baseline. Before and 6 or 12 months after the switch, patients underwent quantitative neurological and developmental assessments and electrophysiological nerve and muscle testing. RESULTSAt baseline, hypotonia, deficiencies in gesture conception or realization, and attention disorders were common. SU improved HbA 1c levels (median change 21.55% [range 23.8 to 0.1]; P < 0.0001), intelligence scores, hypotonia (in 12 of 15 patients), visual attention deficits (in 10 of 13 patients), gross and fine motor skills (in all patients younger than 4 years old), and gesture conception and realization (in 5 of 8 older patients). Electrophysiological muscle and nerve tests were normal. Cerebral MRI at baseline showed lesions in 12 patients, suggesting that the impairments were central in origin. CONCLUSIONSSU therapy in neonatal diabetes secondary to mutations in potassium-channel subunits produces measurable improvements in neuropsychomotor impairments, which are greater in younger patients. An early genetic diagnosis should always be made, allowing for a rapid switch to SU.Neonatal diabetes is a rare condition that develops during the first months of life with an estimated incidence of 1 in 90,000 newborns (1,2). Neonatal diabetes can be permanent or transient, relapsing around puberty after a period of remission. We recently reported that 42% of patients in a large cohort had a heterozygous

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confidence: 94%

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

et al. 2015

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“…Neonatal diabetes, now defined as diabetes before 6 months of age, is a rare condition (29). The distinction between transient and permanent neonatal diabetes is difficult because "transient" cases may have relapses, and "permanent" cases may show remissions.…”

Section: Discussionmentioning

confidence: 99%

Monogenic diabetes mellitus in Norway

Søvika¹,

Irgens²,

Molnes³

et al. 2013

Nor J Epidemiol

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Here, we review data on monogenic diabetes mellitus in Norway based on the Norwegian MODY Registry at Haukeland University Hospital, Bergen. This registry comprises established or suspected cases of maturity-onset diabetes of the young (MODY) referred to our laboratory for genetic testing. We also present data on neonatal diabetes, another group of monogenic diabetes. To date, we have genetically diagnosed nearly 500 MODY cases in Norway. Mutations in the HNF1A gene (MODY3) were detected in about 50% of families with clinical MODY. GCK-MODY (MODY2) was the second most prevalent type, but may be underreported. We have also found mutations in the monogenic genes ABCC8, CEL, HNF1B, HNF4A, INS, KCNJ11 and NEUROD1. Based on genetic screening in the Norwegian MODY Registry and HUNT2, we estimate the number of MODY cases in Norway to be at least 2500-5000. Founder effects may determine the geographical distribution of MODY mutations in Norway. The molecular genetic testing of MODY and neonatal diabetes is mandatory for correct diagnosis and prognosis as well as choice of therapy.

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“…Transient and permanent NDM (TNDM and PNDM) are rare conditions with an estimated incidence of 1 in 260 000 to 500 000 live births. [1][2][3] PNDM is less common than the transient form, and in these patients insulin dependence is lifelong.…”

Section: Introductionmentioning

confidence: 99%

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene

et al. 2012

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Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

Cited by 116 publications

References 9 publications

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

Monogenic diabetes mellitus in Norway

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene

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