Table 1.
Phenotypes of patients and clinical course under empagliflozin
| PT1, female, 21 y, 46 kg | PT2, female, 2 y, 12 kg | PT3, male, 6 y, 27 kg | PT4, female, 2 y, 16 kg | |
|---|---|---|---|---|
| Variants in SLC37A4 (NM_001467.6) | c.[359_360insC];[547T>C], (p.[Cys121Metfs*10];[Cys183Arg]) | c.1042_1043delCT, (p.Leu348Valfs*53) homozygous | c.1042_1043delCT, (p.Leu348Valfs*53) homozygous | c.59G>A, (p.Gly20Asp) homozygous |
| Treatment duration, d | 288 | 217 | 246 | 191 |
| Empagliflozin final dose, mg/kg/d | 0.4 in 2 daily doses | 0.3 once daily | 0.7 in 2 daily doses | 0.5 once daily |
| GCSF, µg/kg/wk | BL: 72; UE: stop at d −2 | BL: 70, stop after d 6 | BL: 51; UE: 10 (−81%) | BL: 17; UE 7.2 (−57%) |
| Median ANC, × 109/L | BL: 0.5; UE: 0.1 (d 1-14), 0.5 (d 15-288) (ref., 1.8-8) | BL: 0.8; UE: 1.5 (d 1-14), 1.3 (d 15-136) (ref., 1.5-8.5) | BL: 1.8; UE: 1.6 (d 1-14), 1.9 (d 15-246) (ref., 1.6-7.6) | BL: 0.5; UE: 1.1 (d 1-14), 1.1 (d 15-160) (ref., 1.8-5.4) |
| Hemoglobin, g/L | BL: 82; UE: 118 (d 288) (ref., 114-135) | BL: 106; UE: 138 (d 136) (ref., 114-135) | BL: 98; UE: 114 (d 246) (ref., 118-146) | BL: 103; UE: 128 (d 191) (ref., 103-138) |
| Thrombopenia, g/L (ref. 140-440) | BL, UE: no (197-485) | BL, UE: no (174-621) | BL, UE: no | BL, UE: no (median, 259-356) |
| Skin and mucosal lesions | BL: constant; UE: incidental, self limiting | BL: constant; UE: incidental, self limiting | BL: recurrent aphthous stomatitis; UE: less frequent | BL: frequent; UE: incidental, self limiting |
| IBD | BL: severe; UE: remission d 12 | BL: clinically not suspected | BL: severe; UE: mild | BL: moderate; UE: absent |
| Stool consistency | BL: up to 20×/d watery, bloody stools; UE: 1-2×/d soft stools | BL: soft stools; UE: constipation | BL: 5-9×/d watery, bloody stools; UE: 2-3×/d formed | BL: up to 8×/d watery, stools; UE: 2×/d soft stools |
| Fecal calprotectin, mg/kg | BL: 419; UE: 58 (d 8), 14 (d 288) (ref., <50) | Not available | BL: 265; UE: max, 60-251 (ref., 60 <mg/kg) | BL: 18; UE: 33 (ref., < 50) |
| Other | UE: increased appetite and oral feeds, weight gain 5 kg (BMI increase, 20 to 22) | UE: increased appetite and oral feeds; height remained on p 10, BMI on p 90 | BL: continuous drip feeding; UE: oral feeds in portions (interval between meals, 3 h), uncooked cornstarch tolerated, eating by himself; height improved from p 2 to p 8, BMI decreased 23 to 20.7 (p >97) | BL: interval between meals, 1.5 h; UE: interval between meals, 2-2.5 h; height remained on p 30, BMI on p 95 |
| Organomegaly (ultrasound and physical examination) | BL: hepatosplenomegaly; UE: hepatomegaly unchanged, splenomegaly decreased | BL, UE: hepatomegaly, no splenomegaly, unchanged | BL: hepatosplenomegaly; UE: decreased | BL, UE: hepatomegaly, no splenomegaly, unchanged |
| Clinically relevant hypoglycemia UE | No | No | No (improvement of glycemic control, no more hypoglycemia induced seizures) | No (improvement of glycemic control) |
BMI, body mass index; BL, baseline; p, percentile; UE, under empagliflozin treatment.