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Table 2 Comparison of the pre- and post-NBS eras

From: Changing clinical manifestations of Gaucher disease in Taiwan

 

Clinical

NBS

p value

Number of patients (n = 27)

21

6

 

Subtype

   

GD1

8 (38%)

1 (17%)

0.182

GD2

1 (5%)

2 (33%)

0.054

GD3

12 (57%)

2 (33%)

0.542

Molecular diagnosis

   

p.Leu483Pro/p.Leu483Pro

10 (48%)

1 (17%)

0.182

p.Leu483Pro/p.Val414Leu

4 (19%)

–

0.256

p.Leu483Pro/p.Asp448His

2 (10%)

–

0.441

p.Leu483Pro/RecNciI†

–

2 (33%)

0.007**

p.Leu483Pro/p.Asn227Ser

1 (5%)

–

0.593

p.Leu483Pro/p.Asn409Ser

1 (5%)

–

0.593

p.Leu483Pro/p.Phe252Ile

1 (5%)

–

0.593

p.Leu483Pro/p.Arg170His

–

1 (17%)

0.061

p.Leu483Pro/p.Arg159Trp

1 (5%)

1 (17%)

0.335

RecNciI/p.Asp448His

1 (5%)

–

0.593

RecNciI/p.Arg159Trp

–

–

1.000

p.Phe252Val/p.328Alafs*12

–

1 (17%)

0.061

Initial presentation

   

Hepatosplenomegaly

21 (100%)

1 (17%)

 < 0.001***

Anemia/thrombocytopenia

20 (95%)

1 (17%)

 < 0.001***

Bone pain/bone crisis

5 (24%)

0 (0%)

0.194

Abnormal eye movements

2 (10%)

1 (17%)

0.630

Poor feeding

1 (5%)

1 (17%)

0.335

Ichthyosis

0 (0%)

1 (17%)

0.061

Median [IQR] age at diagnosis, years

3.5 [2–24.41]

0.05 [0.05–0.20]

 < 0.001***

Median [IQR] age at symptom onset, years

3.5 [2–24.41]

0.5 [0.05–1.37]

0.002**

Median [IQR] age at ERT, years

4.98 [2.18–30.03]

0.86 [0.20–2.43]

0.013*

5-year survival

20 (95%)

3 (50%)

0.007**

  1. The NBS-diagnosed patient with the genotype p.Arg159Trp/p.Leu483Pro patient was unclassified given remaining symptom-free followed by accidental death
  2. IQR, interquartile range
  3. †RecNciI: gene conversion with GBAP. p.Asp448His, p.Leu483Pro, p.Ala495Pro
  4. Statistical differences are shown as *p < 0.05, **p < 0.01, and ***p < 0.001
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172