Table 7. [Permanent Neonatal Diabetes Mellitus: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Diabetes mellitus	Blood glucose concentrations to avoid acute complications such as diabetic ketoacidosis & hypoglycemia	Frequent monitoring in hospital immediately following diagnosis Lifelong monitoring (≥4x/day or w/continuous glucose monitor) after stabilization on treatment
Kidney manifestations	Urinalysis for microalbuminuria Measurement of cystatin C in blood	Annually beginning at age 10 yrs to screen for kidney manifestations of persistent hyperglycemia
Ocular manifestations of DM	Ophthalmologic exam to assess for retinopathy	Annually beginning at age 10 yrs
Development	Developmental eval	Annually or as needed in those w/KCNJ11-, MNX1-, NEUROD1-, & NKX2-2-related PNDM
Seizures	Neurology eval & EEG	As needed in those w/KCNJ11-related DEND syndrome
Exocrine pancreatic insufficiency	Eval of pancreatic exocrine function (fecal elastase, serum concentrations of fat-soluble vitamins)	As needed in those w/symptoms of malabsorption
Serum concentrations of fat-soluble vitamins	Every 6 mos in those w/known exocrine pancreatic insufficiency

System/Concern

Evaluation

Frequency

Diabetes mellitus

Blood glucose concentrations to avoid acute complications such as diabetic ketoacidosis & hypoglycemia

Frequent monitoring in hospital immediately following diagnosis
Lifelong monitoring (≥4x/day or w/continuous glucose monitor) after stabilization on treatment

Kidney manifestations

Urinalysis for microalbuminuria
Measurement of cystatin C in blood

Annually beginning at age 10 yrs to screen for kidney manifestations of persistent hyperglycemia

Ocular manifestations of DM

Ophthalmologic exam to assess for retinopathy

Annually beginning at age 10 yrs

Development

Developmental eval

Annually or as needed in those w/KCNJ11-, MNX1-, NEUROD1-, & NKX2-2-related PNDM

Seizures

Neurology eval & EEG

As needed in those w/KCNJ11-related DEND syndrome

Exocrine pancreatic insufficiency

Eval of pancreatic exocrine function (fecal elastase, serum concentrations of fat-soluble vitamins)

As needed in those w/symptoms of malabsorption

Serum concentrations of fat-soluble vitamins

Every 6 mos in those w/known exocrine pancreatic insufficiency

From: Permanent Neonatal Diabetes Mellitus

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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