Table 1.
Baseline data, presentations, examination results, treatments, and outcomes of the 39 cases.
| No | Sex | GP | GA | BBW | Deli | Major presentation | Coag | Bil↑ | Alb↓ | aFP↑ | Fer↑ | MRI | Sal | L path/Autopsy | IVIG | ET | LT | Out. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | G1P0 | 35 | - | SD | J, E, As, Hm | Y | Y | Y | - | Y | (+) Sid L, P, Adr | N | - | - | - | - | Alive |
| 2 | F | G6P2 | 36 | 1310 | SD | J, R | Y | Y | Y | - | Y | - | Y | - | - | - | - | Alive |
| 3 | M | G2P2 | 33 | 1843 | CS | R, S | Y | Y | - | - | - | - | Y | - | - | - | - | Dead |
| 4 | F | G2P2 | 37 | - | SD | As, R, S, Hg | Y | Y | Y | - | Y | (+) Sid L, P, T, Bm | - | Sid, Cir | - | - | Y | Alive |
| 5 | M | - | 37 | - | CS | R, S | - | Y | - | - | - | (+) L | Y | Sid, Cir | - | - | - | Dead |
| 6 | M | - | 38 | - | CS | Hg, IUGR | Y | Y | Y | - | - | (+) Sid L, P, T | - | Sid, Cir | - | - | Y | Alive |
| 7 | M | G3P2 | 37+5 | 2200 | CS | R, As, Hm | Y | Y | Y | Y | Y | (+) Sid L | Y | - | - | - | - | Alive |
| 8 | F | - | - | 2500 | - | J, Hm | Y | Y | - | - | Y | (+) Sid L | Y | - | - | - | Y | Alive |
| 9 | F | G1P1 | - | 1500 | - | HG | - | Y | - | - | Y | - | - | Sid | - | - | - | Dead |
| 10 | F | G4P2 | 37 | 3550 | CS | E, As, Hg | Y | Y | Y | - | - | (+) Sid L, P | Y | Sid, Cir | Y | Y | - | Dead |
| 11 | M | - | Term | 1786 | - | Retinal E, As | Y | Y | Y | - | Y | (-) Sid | Y | Sid | - | - | Y | Alive |
| 12 | M | G2P1 | 38 | 3150 | - | J, Hg | Y | Y | Y | Y | Y | (+) Sid L, P | - | Cir | Y | Y | - | Alive |
| 13 | F | G4P2 | 35 | 2530 | - | R, Hg | Y | Y | Y | Y | - | (+) Sid L | Y | - | Y | - | - | Alive |
| 14 | - | G4P3 | - | 3300 | CS | J, E, As, Hm | Y | Y | Y | Y | Y | (+) Sid L, P | - | Sid | - | - | - | Dead |
| 15 | F | - | - | 3600 | - | J, E, R, Hm, As | Y | Y | Y | Y | Y | - | - | Sid | - | - | - | Dead |
| 16 | F | G2P1 | 30 | 1750 | CS | HF, R, As | Y | Y | Y | Y | Y | - | - | Sid | Y | - | - | Dead |
| 17 | - | G1P1 | 38 | 3000 | CS | J, E, As | Y | Y | Y | Y | Y | (+) Sid L, P | - | Sid | - | - | - | Dead |
| 18 | - | G3P0 | 37+4 | 2220 | CS | As, Hm | - | Y | - | - | - | (-) Sid, Cir | - | Cir, C5b9 | - | - | - | Alive |
| 19 | F | G6P4 | 38+6 | 2200 | SD | J, R, IUGR | Y | Y | Y | - | Y | - | Y | - | Y | Y | - | Alive |
| 20 | M | G1P1 | 37+5 | 2122 | SD | J, Hg, IUGR, Hm, As | Y | Y | Y | - | Y | (-) Sid | N | Sid, Cir, C5b9 | Y | Y | Y | Alive |
| 21 | M | G3P2 | 36+6 | 4345 | CS | HF, D, As | Y | - | Y | - | Y | (-) Sid | N | Sid, Cir | Y | - | - | Alive |
| 22 | F | G1P1 | 39 | 2724 | SD | Hg, As | Y | Y | Y | Y | Y | (+) Sid L, P | N | - | Y | Y | - | Alive |
| 23 | - | - | Term | 3200 | - | J, Hg | Y | Y | Y | - | Y | (+) Sid CNS | Y | Sid, Cir | Y | - | Y | Alive |
| 24 | F | G3P3 | 34 | 1830 | CS | Hm, As | Y | - | Y | - | Y | (+) Sid L, P | - | Sid, Cir | - | - | - | Alive |
| 25 | F | G2P2 | 36+2 | 1270 | SD | Hg, Hm, As | Y | Y | Y | - | Y | (+) Sid L | - | Sid, Cir | - | - | Y | Alive |
| 2627 28+ |
MF F |
G1P1G1P1 - |
27+6 31+4 32+3 |
591835 1594 |
CSCS - |
IUGRJ, As, Hm, IUGR Hg |
YY Y |
YY Y |
YY Y |
– - |
YY Y |
-(+) Sid L - |
-N - |
Sid, Cir, C5b9, ehsSid, Cir, ehs Cir |
– Y |
Y- Y |
– Y |
DeadDead Alive |
| 29 | F | - | - | - | - | As | Y | - | - | Y | Y | (+) Sid L, P, H, Adr | - | - | Y | Y | - | Alive |
| 30* | M | - | 37 | 2490 | CS | E, R, Hg, Hm | Y | Y | - | - | Y | (+) Sid L | - | - | Y | - | - | Alive |
| 31* | M | - | 37 | 2500 | CS | Hm | Y | Y | - | - | Y | (+) Sid L | - | - | - | - | - | Alive |
| 32 | M | G3P3 | 33+4 | - | CS | R, E, Hg, Hm | Y | Y | Y | Y | Y | - | Y | - | Y | Y | - | Alive |
| 33 | M | G6P4 | 39+6 | - | - | R, Hg | Y | Y | Y | Y | Y | (+) Sid L, P, Bm | N | - | Y | Y | - | Alive |
| 34 | F | G3P0 | 32+2 | - | CS | R, E, As | Y | Y | Y | - | Y | (+) Sid L | - | - | Y | Y | - | Alive |
| 35 | M | - | 35 | 1600 | - | Hg, IUGR | Y | Y | - | - | Y | - | Y | Sid | Y | Y | - | Dead |
| 36 | M | - | - | 2900 | CS | J, R, S, D, Hm, As | Y | Y | Y | - | Y | - | - | Sid, Cir | - | - | - | Dead |
| 37 | F | G3P3 | 35 | 3115 | CS | HF | Y | Y | - | - | Y | (+) Sid L, P | Y | - | Y | Y | - | Dead |
| 38 | - | - | 37 | 3200 | - | S | Y | Y | - | - | Y | - | Y | Sid, ehs | Y | Y | - | Dead |
| 39** | F | G1P1 | 37+3 | 2115 | CS | R, As | Y | Y | Y | Y | Y | (+) Sid L, P | - | Sid, Cir | Y | Y | - | Alive |
Adr, adrenal; aFP, alpha-fetoprotein; Alb, albumin; As, ascites; BBW, birth bodyweight; Bil, bilirubin; Bm, bone marrow; Cir, cirrhosis or fibrotic change; Coag, coagulopathy; CS, cesarean section; C5b9, positive stain of C5b9; Deli, delivery route; D, Down syndrome-like presentation; E, edema; ehs, extrahepatic siderosis; ET, exchange transfusion; F, female; Fer, ferritin; GA, gestational age; GP, gravidity and parity; H, heart; HF, hydrops fetalis; Hm, hepatomegaly; Hg, hypoglycemia; HG, hyperglycemia; IUGR, intrauterine growth retardation; IVIG, intravenous immunoglobulin; J, jaundice; L, liver; LT, liver transplantation; M, male; Out, outcome; P, pancreas; path, pathology; R, respiratory distress; Sal, salivary gland biopsy; SD, spontaneous delivery; Sid, siderosis; T, thyroid gland;
, monozygotic twins;
, our case; +, family history of GALD.