TABLE 2.
Present and reported patients with congenital hepatic fibrosis and autosomal dominant polycystic kidney disease
| References | Family (patient) | Sex | Age at evaluation, y | DNA analysis | Family history | Family members with ADPKD without CHF/PH | Liver biopsy (age) | Splenomegaly (age) | WBC count, K/μL | PLT count, K/μL | Esophageal varices | Variceal bleeding (age) | Liver cysts | Liver synthetic function | Liver enzymes |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Present report | Family 1 (III-1) | F | 12 | c. 856_862delTCTGGCC p. Ala286fs2X in PKD1, no mutation in PKHD1 | ADPKD | Father, paternal aunt, paternal grandmother, and brother | CHF (33) | Yes | 5.36 | 229 | Yes | Yes (4) | No | Normal | Normal |
| Family 1 (III-3) | M | 17 | NR | Yes | 3.15 | 115 | Yes, grade 1 | No | No | Normal | Normal | ||||
| Family 2 (II-2) | F | 33 | g.31944G>A p.Glu2771Lys in PKD1 No mutation in PKHD1 | ADPKD | Father, daughter, and son | CHF (1) | Yes | 3.2 | 87 | Yes, grade 3 | No | Cysts in right posterior | Normal | Normal | |
| Family 3 (II-2) | F | 36 | g.26918T>G p.Phe2132Cys in PKD1 no mutation in PKHD1 | ADPKD | Mother | CHF (33) | Yes | 2.77 | 64 | No | No | Multiple small cysts | Partially impaired | Normal | |
| Tazelaar et al (19) | Index case | F | 19 | NR | ADPKD | Mother, maternal aunt, and second cousin | CHF (19) | Yes (5) | NR | NR | Yes | Yes | No | NR | NR |
| Lee et al (18) | Index case | F | 7 | NR | ADPKD | Father (no CHF on biopsy), paternal grandmother (no splenomegaly on autopsy at age 51) | CHF(7) | Yes, splenorenal shunt | NR | NR | Yes | Yes, recurrent | NR | Normal | Normal |
| Brother | M | 14 | NR | Yes | NR | NR | NR | No | No | NR | NR | ||||
| De Vos et al (17) | Family 1 (III-1) | M | 7 | NR | ADPKD | Mother (no CHF on biopsy) | CHF (7) | Yes, splenectomy, portocaval shunt at age 7 | NR | Reduced | NR | No | NR | NR | NR |
| Family 1 (III-3 | M | 3 | CHF | Yes, portocaval shunt | 2.8 | 43 | Yes | No | No | NR | Mildly elevated | ||||
| Family 2 (II-3) | M | 12 | NR | ADPKD | Mother, sister, and 2 brothers | CHF | Yes (10), portocaval shunt | NR | 21 | Yes | Yes | Dilated CBD, intrahepatic cysts in communication with biliary tree | Normal | Mildly elevated | |
| Family 2 (II-5) | M | 7 | ADPKD | CHF | Yes, distal splenorenal shunt | NR | 97 | Yes | No | Multiple small cysts | Normal | Mildly elevated | |||
| Matsuda et al (16) | Index case | M | 33 | NR | ADPKD | Father (no CHF on biopsy), 2 paternal uncles | CHF, no von Meyenberg complexes (33) | Yes (17) | NR | NR | NR | NR | No | Normal | NR |
| Cobben et al (15) | Family PK2 (III-3) | F | 29 | Linkage to chromosome 16 | ADPKD | 2 sisters | CHF (8) | Yes splenectomy at age 8 | NR | NR | Yes | Yes (12) | No | NR | NR |
| Family PK2 (III-4) | F | 27 | CHF (16) | Yes | NR | NR | Yes | Yes (16) | No | NR | NR | ||||
| Family PK67 (III-1) | M | 29 | Linkage to chromosome 16 | ADPKD | Mother and sister | CHF (3) | Yes | Reduced | Reduced | No | No | No | NR | NR | |
| Family PK67 (III-2) | F | 27 | CHF (18) | Yes (birth) | NR | NR | Yes | No | No | NR | NR | ||||
| Family PK11 (III-7) | M | 19 | Linkage to chromosome 16 | ADPKD | Mother, 2 maternal aunts, and maternal grandmother | CHF (11) | Yes (11) | Reduced | Reduced | Yes | No | No | NR | NR | |
| Lipschitz et al (14) | Index case | F | 19 | NR | ADPKD | Mother maternal grandfather, 2 sisters, and a brother | CHF (14) | Yes (4) | 2.8 | 62 | Yes | Yes | No | Normal | Normal |
| Kanaheswari et al (13) | Index case | F | 6 | NR | ADPKD | Father | CHF (6) | Yes | 6.6 | 67 | NR | No | No | Normal | Normal |
ADPKD = autosomal dominant polycystic kidney disease; CHF = congenital hepatic fibrosis; F = female; M = male; NR = not reported; PH = portal hypertension.