Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia

Table 1 Clinical features of 8 patients with HIH

Patient	Gender	GA (wk)	BW(g)	Age of onset	Age at diagnosis	Current age	Initial presentation	Family history	Treatment and long-term follow-up
P1	Male	38	3300	3 days	0.5 y	5.2 y	seizures	Negative	Diet and antiepileptic drugs, only once hypoglycemia occurred.
P2	Male	39	4000	1 days	0.4 y	1.3 y	hypoglycemia occurred within 24 h after birth	Negative	diazoxide-unresponsive; received octreotide treatment, His glucose level was normal.
P3	Male	38	4500	0.5 y	3.5 y	8.2 y	seizures	Negative	antiepileptic drugs treatment.; Unresponsive to diazoxide and octreotide; glucose supplement if hypoglycemia occurred. And he had mental retardation.
P4	Female	38	5460	1 days	0.1 y	3 y	hypoglycemia occurred within 24 h after birth	Her mother had GDM and Hypothyroidism, and received metformin and Levothyroxine treatment.	diazoxide-responsive, and discontinuation for 1 years, her glucose level was normal
P5	Female	41	4600	10 days	0.1 y	5 y	hypoglycemia	Her mother had GDM and received insulin treatment.	diazoxide-responsive, and discontinuation for 2 years, no hypoglycemia occurred.
P6	Female	39	4000	1 days	0.1 y	4.2 y	hypoglycemia	Negative	diazoxide-responsive, and she received diazoxide treatment till 2 years. No hypoglycemia occurred.
P7	Male	39	3200	1 days	5 y	7 y	recurrent seizures and microcephaly	Negative	Diazoxide and octreotide unresponsive, and hypoglycemia occurred frequently even after pancreatectomy; he had mental retardation.
P8	Male	38	3450	0.6 y	0.6 y	7.6 y	hypoglycemia	Negative	Diet treatment, no hypoglycemia occurred.

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