Table 2 Laboratory, imaging findings and molecular analysis of 8 patients with HIH
Patient | Glucose (mmol/L) | Insulin (µIU/mL) | C-peptide (nmol/L) | Urine acetone | Imaging finding | ABCC8 abnormality | Inheritance |
|---|---|---|---|---|---|---|---|
P1 | 1.6 | 6.2 | 1.02 | Negative | Abdominal and cranial MRI was normal. | c. 3126_3129delinsTC, p. Leu1043Hisfs*70 | Paternal |
P2 | 0.8 | 8.8 | 0.69 | Negative | Abdominal and cranial MRI was normal. | c. 2521 C > G, p. Arg841Gly | Paternal |
P3 | 2.5 | 5.6 | 2.84 | Negative | NA | c. 3784G > A, p. Ala1262Thr | Paternal |
P4 | 1.9 | 17.9 | 10.8 | Negative | Adenohypophysis hyperplasia | c. 1332 + 2T > C; c. 4478G > A, p. Arg1493Gln | Paternal Maternal |
P5 | 1.9 | 77.8 | 8.6 | Negative | Full pancreas; deep frontotemporal sulci on both sides | c. 4532T > C, p. Ile1511Thr | Maternal |
P6 | 2.3 | 5.9 | 5.8 | Negative | NA | c. 2669T > C, p. Leu890Pro | De novo |
P7 | 1.5 | 12.6 | 2.4 | Negative | NA | c. 3124_3126delins13, p. Thr1042Glnfs*75 | Paternal |
P8 | 2.4 | 6.2 | 2.3 | Negative | Abdominal and cranial MRI was normal. | c.331G > A, p. Gly111Arg | Paternal |