From: The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy
Diagnosis | ORPHA code | Tx (n. 94) | Rare diseases (n. 93) | Monogenic diseases (n. 82) |
---|---|---|---|---|
n. (% respect to total Tx) | n. (% respect to rare diseases) | |||
Bronchiolitis obliterans | 1303 | 2 | 2 (2.1) | Â |
Chronic obstructive pulmonary disease | Â | 1 | Â | Â |
Cystic fibrosis | 586 | 75 | 75 (80.6) | 75 (80.6) |
Eisenmenger syndrome | 97,214 | 4 | 4 (4.3) | 4 (4.3) |
Idiopathic pulmonary fibrosis | 2032 | 1 | 1 (1.1) | 1 (1.1) |
Interstitial lung disease due to ABCA3 deficiency | 440,402 | 1 | 1 (1.1) | 1 (1.1) |
Langerhans cell histiocytosis | 389 | 1 | 1 (1.1) | 1 (1.1) |
Pulmonary arterial hypertension | 182,090 | 7 | 7 (7.5) | Â |
Rejection/Complication after organ transplantation | 306,644 | 2 | 2 (2.1) | Â |