Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan

Table 1

Patients’ characteristics (N = 49).

Patients’ characteristics	Frequency	Percentage (%)
Genetic mutation confirmed	37	75.5
No genetic mutation	12 (In one patient, a mutation of uncertain significance was identified)	24.5
Male : female	1.7 : 1	—
Mean age of onset (in days)	59	—
Families with consanguinity	34	75.5
Families with death of undiagnosed sibling	8	17.7
DKA at presentation	20	40.8
Clinical features
Dehydration	21	42.9
Failure to thrive	20	40.8
Hepatomegaly/liver disorder	10	20.4
Skeletal dysplasia/rickets	7	14.3
Anemia/megaloblastic anemia	6	12.2
Acute kidney injury/renal disorder	6	12.2
Neurological disorder	6	12.2
Malabsorption/chronic diarrhea	4	8.2
Cardiac disorder	3	6.1
Polyuria/polydipsia	3	6.1
Current medical status
On insulin	14	28.6
Remission off treatment	1	2
On sulfonyl urea	2	4.1
Lost to follow-up	25	51
Died	7	14.3
Total number	49	100