Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus (PNDM) is defined as an diabetes mellitus that starts within the first six month of life. Antenatal growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive are commonly accompanying features. Several genes are involved in PNDM. Inheritance is autosomal dominant (KCNJ11 and INS), autosomal dominant or recessive (ABCC8), and autosomal recessive (GCK and PDX1).

Systematic

Neonatal diabetes mellitus
Leprechaunism
Mitchell-Riley syndrome
Neonatal diabetes mellitus with congenital hypothyroidism
Pancreatogenic diabetes
Permanent neonatal diabetes mellitus
ABCC8
Developmental delay, epilepsy, and neonatal diabetes
KCNJ11
GCK
INS
KCNJ11
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1
Wolcott-Rallison syndrome
EIF2AK3
Rabson-Mendenhall syndrome
Renal cysts and diabetes (RCAD)
Transient neonatal diabetes mellitus 1
Transient neonatal diabetes mellitus 2
Transient neonatal diabetes mellitus 3
X-linked immunodysregulation, polyendocrinopathy, and enteropathy

References:

1.

Njølstad PR et al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency.

[^]
2.

Støy J et al. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes.

[^]
3.

Edghill EL et al. (2008) Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

[^]
4.

Polak M et al. (2008) Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.

[^]
5.

Colombo C et al. (2008) Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

[^]
6.

Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients.

[^]
7.

Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

[^]
8.

Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

[^]
9.

Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

[^]
10.

Massa O et al. (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

[^]
11.

Gloyn AL et al. (2006) KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

[^]
12.

Shimomura K et al. (2007) A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

[^]
13.

None (2000) Neonatal diabetes: new insights into aetiology and implications.

[^]
14.

Gloyn AL et al. (2002) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

[^]
15.

Zung A et al. (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

[^]
16.

Pearson ER et al. (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

[^]
17.

Stanik J et al. (2007) Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

[^]
18.

Arthur EI et al. () Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin.

[^]
19.

Flechtner I et al. (2006) Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.

[^]
20.

OMIM.ORG article

Omim 606176 [^]
21.

Orphanet article

Orphanet ID 99885 [^]
22.

Wikipedia article

Wikipedia EN (Permanent_neonatal_diabetes_mellitus) [^]
Update: April 29, 2019