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Table 8 Diagnostic categories in liver transplanted pediatric cohort and distribution between rare and monogenic diseases

From: The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy

Diagnosis

ORPHA code

Tx (n. 1,037)

Rare diseases (n. 904)

Monogenic diseases (n. 689)

n. (% respect to total Tx)

n. (% respect to rare diseases)

Acute liver failure—Fulminant or subfulminant hepatic failure

 

53

  

Alagille syndrome

52

47

47 (4.5)

47 (5.2)

Alpha-1 antitrypsin deficiency

60

11

11 (1.1)

11 (1.2)

Angiosarcoma (neoplasia)

263,413

1

1 (0.1)

 

Budd-Chiari syndrome

131

5

5 (0.5)

5 (0.5)

Caroli disease

53,035

6

6 (0.6)

 

Cholestatic disease—Primary biliary cirrhosis

186

17

17 (1.6)

 

Cholestatic disease—Primary sclerosing cholangitis

171

42

42 (4.1)

 

Cholestatic disease—Other

 

27

  

Cholestatic disease—Secondary biliary cirrhosis

447,774

29

29 (2.9)

 

Cirrhosis—Autoimmune

779

8

8 (0.8)

 

Cirrhosis—Other

 

10

  

Cirrhosis—Virus related

 

11

  

Congenital biliary disease—Extrahepatic biliary atresia

498,345

426

426 (41.1)

426 (47.1)

Crigler-Najjar syndrome type 1

79,234

4

4 (0.4)

4 (0.4)

Cryptogenic cirrhosis

 

24

  

Epithelioid hemangioendothelioma (neoplasia)

157,791

3

3 (0.3)

 

Familial hypercholesterolemia

391,665

1

1 (0.1)

 

Glycogen storage disease

79,201

6

6 (0.6)

6 (0.6)

GVHD

99,921

3

3 (0.3)

 

Hemochromatosis

220,489

5

5 (0.5)

5 (0.5)

Hepatic trauma

 

1

  

Hepatoblastoma (neoplasia)

449

55

55 (5.3)

 

H epatocellular (neoplasia)

88,673

19

19 (1.8)

 

Hepatocellular carcinoma—Fibrolamellar (neoplasia)

401,920

2

2 (0.2)

 

Isolated Congenital hepatic fibrosis

485,426

19

19 (1.8)

19 (2.1)

Langherans cell histiocytosis

389

3

3 (0.3)

 

Metabolic disease—Cystic fibrosis

586

17

17 (1.6)

17 (1.9)

Metabolic disease—Others

91,088

49

49 (4.7)

49 (5.4)

Metabolic disease—Primary hyperoxaluria

416

25

25 (2.4)

25 (2.8)

Metabolic disease—Tyrosinemia

882/28378/ 68,723

11

11 (1.1)

11 (1.2)

Methylmalonic acidemia with homocystinuria, type cblD

79,283

3

3 (0.3)

3 (0.3)

Neonatal intrahepatic cholestasis caused by citrin deficiency

247,598

1

1 (0.1)

1 (0.1)

Other neoplasia

 

7

  

Other rare liver diseases

#

26

26 (2.5)

 

Polycystic liver disease

2924

6

6 (0.6)

6 (0.6)

Progressive familial intrahepatic cholestasis

172

36

36 (3.5)

36 (4.0)

Wilson disease

905

18

18 (1.7)

18 (2.0)

  1. Tx: transplants; GVHD: graft-versus-host disease; # several ORPHA codes