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Table 1 Clinical characteristics of PCD patients with variants in DNAH5

From: Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review

Parameters

Total

(n = 323)

Pediatric

(n = 104)

Adult

(n = 58)

P value

Female

(n = 82)

Male

(n = 86)

P value

Demographic

Malea

86/168(51.19%)

44/82(53.66%)

25/43(58.14%)

0.6336

0/82(0.00%)

86/86(100.00%)

1.0000

Adulta

58/162(35.80%)

0/104(0.00%)

58/58(100.00%)

1.0000

18/56(32.14%)

25/69(36.23%)

0.7065

Age at onset (years)*

0.0025(0, 1)

0(0, 0.3)

0.8(0, 9.8)

0.0673

0.0025(0, 5)

0.0833(0, 0.4)

0.7613

Age at diagnosis (years)*

11.8(7, 19)

8(4.3, 11)

27(18, 35)

 < 0.0001

11.6(8, 19)

11.7(6, 18)

0.2734

Clinical manifestations

Infectionsa

15/22(68.18%)

8/13(61.54%)

6/8(75.00%)

0.6557

7/11(63.64%)

8/11(72.73%)

1.0000

Pseudomonas aeruginosaa

7/15(46.67%)

2/8(25.00%)

5/6(83.34%)

0.0987

3/7(42.86%)

4/8(50.00%)

1.0000

Other pathogena

8/15(53.34%)

6/8(75.00%)

1/6(16.67%)

0.4231

4/7(57.14%)

4/8(50.00%)

1.0000

Neonatal distressa

86/143(60.14%)

59/89(66.29%)

16/41(39.02%)

0.0043

26/48(54.17%)

36/63(57.14%)

0.8475

Situs inversusa

112/187(60.22%)

57/104(54.81%)

32/56(57.14%)

0.7774

26/48(54.17%)

46/79(58.22%)

0.8347

Bronchiectasisa

92/139(66.19%)

36/69(52.17%)

41/50(82.00%)

0.0009

42/55(76.37%)

34/59(57.63%)

0.0340

Sinusitisa

140/162(86.42%)

78/91(85.71%)

42/49(85.71%)

1.0000

48/61(78.69%)

59/66(89.39%)

0.0993

Otitis mediaa

87/135(64.44%)

61/85(71.76%)

25/43(58.13%)

0.0854

27/48(56.25%)

31/56(55.36%)

1.0000

Infertilitya

11/25(44.00%)

0/4(0.00%)

9/14(64.28%)

0.0275

2/10(20.00%)

9/15(60.00%)

0.1181

Cilia ultrastructure and movement

Normal ultrastructurea

8/210(3.81%)

6/74(8.11%)

1/37(2.70%)

0.4208

4/48(8.33%)

4/55(7.27%)

1.0000

ODA defectsa

165/210(78.57%)

51/74(68.92%)

34/37(91.89%)

0.0082

33/48(68.75%)

38/55(69.09%)

1.0000

ODA + IDA defecta

30/210(14.29%)

13/74(17.57%)

1/37(2.70%)

0.0323

7/48(14.58%)

10/55(18.18%)

0.7912

Other defectsa

7/210(3.33%)

4/74(5.41%)

1/37(2.70%)

0.6631

4/48(8.33%)

3/55(5.45%)

0.8519

Immotile ciliaa

58/83(69.88%)

25/39(64.10%)

9/17(52.94%)

0.5540

17/28(60.7%)

22/30(73.3%)

0.4035

Dyskinetic ciliaa

25/83(30.12%)

14/39(35.90%)

8/17(47.06%)

0.5540

11/28(39.3%)

8/30(26.7%)

0.4035

Other indices

FEV1%*

83.2(55.0, 93.7)

87.6(81.4, 96)

50.4(46.4, 76.4)

0.0032

69.3(50.2, 95.2)

85.4(81.1, 93.3)

0.3522

FVC%*

79.7(62.9, 105.3)

80.1(63.9,105.2)

79.3(43.5, 106.6)

0.5523

75(62.8, 87.6)

95.3(69.1, 108.2)

0.3050

FEV1/FVC%*

68.7(62.5, 90.8)

91.4(87.2,100.1)

63.6(55.9, 67.1)

0.0019

65.5(60.2, 89.7)

77.3(63.0, 94.9)

0.5185

  1. Data expressed as *median (interquartile range) or an/N (percentage). N is the total number of patients with available data
  2. Pediatric participants were diagnosed with the disease at an age ≤ 16 years; Adult participants were diagnosed with the disease at an age > 16 years
  3. TEM, transmission electron microscopy; IDA, inner dynein arm; ODA, outer dynein arm; Other defects, defects in radial spoke, central pair, micro-tubular disorganization, nexin bridges or no cilia detectable; Immotile cilia, immotile or loss of ciliary motion; Dyskinetic cilia, cilia with minimal residual, limited range, stiff or dyskinetic movements, or with low ciliary beat frequency (CBF); FEV1%, forced expiratory flow in 1 s in predicted; FVC%, forced vital capacity in predicted.
  4. P value was calculated from the x2, Kruskal–Wallis or Mann–Whitney U test. Statistically significant value (p < 0.05) is marked in bold
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172