TABLE 1.
Distribution of conditions associated with CHF
| CHF subtype | n (% total 1230 patients) |
Mean age at diagnosis, y; no. reported (median, range, standard deviation) |
Diagnostic modality N (%) |
Most common presenting symptom/condition N (%) |
|---|---|---|---|---|
| Isolated CHF | 118 (9.5) | 17.8; 37 (12, 0.3–67, 16.6) | 79 reported Liver biopsy: 79 (100) |
43 reported*,† Portal hypertension: 16 (37) GI bleeding: 13 (30) Cholangitis: 5 (12) |
| ARPKD | 788 (64) | 2.5; 150 (0, 0–37, 6.2) | 184 reported Liver Biopsy: 61 (33) Liver biopsy + renal imaging (ultrasound, IVP): 11 (6) Renal biopsy: 39 (21) Renal biopsy + imaging (U/S): 12 (7) Liver and kidney biopsy: 17 (9) Imaging alone (IVP, CT, MRCP, U/S): 23 (13) Prenatal U/S: 12 (7) Other§: 9 (5) |
195 reported‡ Nephromegaly: 63 (32) Renal insufficiency: 33 (17) Abdominal mass/distension: 25 (13) Portal hypertension: 24 (12) Cholangitis: 13 (7) GI bleeding: 12 (6) Neonatal respiratory distress: 8 (4) |
| Caroli disease/ syndrome |
315 (25.6) | 22.3; 92 (20, 0–75, 19.9) | 95 reported Liver pathology (biopsy, lobectomy): 66 (69) Liver pathology + imaging (CT, ultrasound, MRCP): 14 (15) Hepatobiliary imaging (ERCP, MRCP, PTC, ultrasound): 9 (10): unspecified imaging: 6 (6) |
103 reported‖ Cholangitis: 67 (65) Portal hypertension: 8 (8) Abdominal distension/mass: 6 (6) Nephromegaly: 4 (4) Cholelithiasis: 3 (3) |
| Type V CC | 9 (<1) | 18; 5 (0, 0–45, 24.6) | 4 reported Ultrasound: 3 (75) MRCP: 1 (25) |
2 reported Cholangitis: 2 (100) |
ARPKD = autosomal recessive polycystic kidney disease; CHF = congenital hepatic fibrosis; CT = computed tomography; ERCP = endoscopic retrograde cholangiopancreatography; IVP = intravenous pyelogram; MRCP = magnetic resonance cholangiopancreatography; PTC = percutaneous transhepatic cholangiography.
Portal hypertension without gastrointestinal bleeding as presenting symptoms. Gastrointestinal bleeding documented to be related to portal hypertension as presenting symptom.
Other presenting symptoms for isolated CHF included (no. patients): family screening (3), abdominal distension (3), fatigue (2), abdominal pain (1).
Other presenting symptoms for ARPKD included (no. patients): nonspecific urinary symptoms (6), flank pain (3), genetic screening (2 patients), poor growth (2 patients), fever (2), cholestasis (1 patient), glomerulonephritis (1 patient).
Unclear what organ biopsied (6 patients), genetic testing (2 patients), autopsy (1 patient).
Other presenting symptoms for CD/CS included (no. patients): jaundice (4), abdominal pain (4), fever (3), gastrointestinal bleeding (2), family screening (2).