Table 5 Comparison of clinical characteristics of children with SDS in different regions of the world
From: Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review
Feature | China | Other countries in Asia | Europe | North America | χ2 | P |
|---|---|---|---|---|---|---|
Case number | 44 | 27 | 102 | 46 | — | — |
Male [n (%)] | 25(56.8) | 18(66.7) | 58(56.7) | 29(63.0) | 1.238 | 0.744 |
Median age of onset, months | 2.7 | — | — | — | — | — |
Median age at diagnosis, years | 1.1 | 2.0 | 0.55 | 3.5 | — | — |
Neutropenia [n (%)] | 39(88.6) | 21(77.8) | 23(22.5) | 38(82.6) | 83.421 | <0.01 |
Three lineages decreased [n (%)] | 12(27.2) | 13(48.1) | — | 7(15.2) | 9.492 | 0.009 |
Secondary tumor [n (%)] | 3(6.8) | 4(14.8) | 12(11.8) | 3(6.5) | —a | 0.541 |
Pancreatic diseases [n (%)] | 32(72.7) | 26(96.2) | — | 28(77.8) | 10.986 | 0.004 |
Short stature [n (%)] | 26(59.1) | 22(81.5) | 60(61.2) | 35(76.1) | 9.743 | 0.021 |
Skeletal Anomalies [n (%)] | 18(40.9) | 15(55.6) | — | 19(41.3) | 1.756 | 0.416 |
Mental retardation [n (%)] | 6(13.6) | — | 25(24.5) | — | 2.173 | 0.140 |
Phenotypic distribution of major genes | 42 | 27 | — | 46 | — | — |
c.258 + 2T > C [n (%)] | 35(83.3) | 25(92.6) | — | 41(89.1) | 1.440 | 0.487 |
c.183-184TA > CT [n (%)] | 26(61.9) | 20(74.1) | — | 31(67.4) | 1.107 | 0.575 |
Other non-SBDs genes [n (%)] | 1(2.4) | — | — | 4(7.0) | —a | 0.363 |