Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism

Table 1

The characteristics of neonates with congenital hyperinsulinemia receiving sirolimus.

	Gender/birth weight	Age of sign/symptoms of hypoglycemia	Plasma glucose level during hypoglycemia (mg/dL)	Insulin level (mciu/ml)	Previous treatment	Previous surgery	Disease-causing variant	ACMG classification
Patient 1	Female/4200 gr	4^th day	27	47	Diazoxide and octreotide	Yes (5 weeks)	Homozygous missense variant in ABCC8 gene c.331G > A (p.Gly111Arg)	Uncertain significance
Patient 2	Female/2600 gr	First day	34	63	Diazoxide and octreotide	Yes (4 and 12 weeks) (histologic features: Diffused islet hyperplasia)	Homozygous nonsense variant in ABCC8 gene c.2809C > T (p.Gln937Ter)	Pathogenic
Patient 3	Male/3150 gr	4^th day	32	54	Diazoxide and octreotide	No	Heterozygous missense and aberrant splicing in ABCC8 gene c.96C > G and c.2041–21G > A (p.Asn32Lys)	Both uncertain significance
Patient 4	Female/3500 gr	2^nd day	36	65	Diazoxide and octreotide	No	Homozygous missense variant in KCNJ11 gene c.370T > A (p.Ser124Thr)	Uncertain significance
Patient 5	Female/4100 gr	First day	28	28	Diazoxide and octreotide	No	Homozygous missense variant in KCNJ11 gene c.362T > G (p.Phe121Cys)	Uncertain significance
Patient 6	Male/2300 gr	From early infancy with attacks of seizure in 3.5 years diagnosed as hyperinsulinism	44	34.6	Diazoxide and octreotide	Yes (4.5 years) (histologic features: Islet hyperplasia)	Heterozygous missense variant in ABCC8 gene c.3446G > A (p.Cys1149Tyr)	Likely pathogenic

ACMG: American College of Medical Genetics. According to varsome.com (7).