TABLE 1.
Clinical characteristics of the patient cohort.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|
| Sex | Male | Male | Male | Female | Male |
| Alive | No | No | No | Yes | Yes |
| Age last follow-up (mo) | 37 | 42 | 9 | 212 | 42 |
| Pregnancy | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable |
| Anthropometry at birth | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable |
| TRPM7 variant 1 | c.4955C>T; p.Pro1652Leu | c.4955C>T; p.Pro1652Leu | c.4955C>T; p.Pro1652Leu | c.[2005_2006del]; p.[Ser699Ter] | c.[553G>T]; p[Gly185Ter] |
| TRPM7 variant 2 | c.4955C>T; p.Pro1652Leu | c.4955C>T; p.Pro1652Leu | c.4955C>T; p.Pro1652Leu | c. [5329G>A]; p.[Asp1777Asn] | c.[5475G>T]; p.[Lys1825Asn] |
| Hepatic symptoms | |||||
| Age at first symptoms (mo) | 36 | 6 | 7 | 9 | 35 |
| ALF episodes | 1 | 4 | 2 | 3 | 2 |
| HE | Yes | Yes | Yes | Yes | Yes |
| trigger of ALF | Viral infection | Viral infection | Viral infection | NA | Viral infection |
| TB (µmol/L) | 37.57 | 94.52 | 467.16 | NA | 112.2 |
| DB (µmol/L) | 30.43 | 24.65 | 340.34 | NA | 81.6 |
| ASAT (IU/L) | 25,318 | 21,000 | 178 | 951 | 3465 |
| ALAT (IU/L) | 7435 | 6800 | 100 | 719 | 1070 |
| GGT (IU/L) | n.a. | 154 | 45 | NA | 1730 |
| LDH (IU/L) | 14,600 | 10,167 | 413 | NA | 452 |
| INR | >6 | >6 | >6 | >6 | 1.57 |
| Albumin (g/L) | NA | NA | 26359 | NA | 25.9 |
| Ammonia (µmol/L) | 144 | 366 | 165 | NA | 67 |
| Mg (mmol/L) | Normal | Normal | Normal | Normal | 0.3 |
| Liver transplantation | No | No | Listed | Yes | No |
| age at LT (mo) | NA | NA | NA | 68 | NA |
| Clinical course | Deceased during ALF | Deceased during ALF | Deceased during ALF | Unremarkable after LT | Recovered from ALF |
| Other organ manifestations | No | No | No | No | No |
Abbreviations: ALF, acute liver failure; DB, direct bilirubin; INR, international normalized ratio; LDH, lactate dehydrogenase; LT, liver transplantation; NA, not available; TB, total bilirubin.