Table 3 Characteristic clinical Symptoms and other abnormalities in SDS patients
From: Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review
Clinical features | Proportion %(n/N) |
|---|---|
Characteristic clinical findings | |
Pancreatic exocrine dysfunction | 83.3(130/156) |
Chronic diarrhea | 54.5(85/156) |
Pancreatic enzyme reduction | 56.8(42/74) |
Radiographic fat infiltration | 57.1(48/84) |
Only radiographic fat infiltration | 4.5(7/156) |
Chronic diarrhea + Pancreatic enzyme reduction + Radiographic fat infiltration | 6.9(9/130) |
Failure to thrive | 83.3(130/156) |
Skeletal deformity | 57.1(89/156) |
Hepatopathy | 50.0(78/156) |
Other manifestations | |
Mucocutaneous lesions | 43.7(31/71) |
Hypotonia | 35.6(16/45) |
Splenomegaly | 23.1(15/65) |
Ophthalmic abnormalities | 23.2(13/56) |
Cognitive decline | 23.4(11/47) |
Language development delays | 22.2(10/45) |
Cardiac anomalies | 9.9(7/71) |
Arthropathy | 14.9(7/47) |