Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

BMC Nephrology

Table 2 Enzymatic and genetic testing for Fabry disease in the index case and family screening

Patient No	Sex	Age	Kinship	Mutation in GLA gene	Alpha-galactosidase A activity (nmol/ml/h) Normal range: > 3.0	LysoGb3 in plasma (nmol/l) Normal range: < 2.3
1	M	51	Index Case	p.E358K hemizygote	0.2	117.19
2	F	14	Daughter of Index Case	p.E358K heterozygote	11.9	6.74
3	F	9	Daughter of Index Case	p.E358K heterozygote	12.1	3.82
4	F	49	Sister of Index Case	wt	16.0	1.15
5	F	45	Sister of Index Case	wt	20.2	1.15
6	F	72	Mother of Index Case	wt	17.3	1.40

Abbreviations: LysoGb3 globotriaosylsphingosine, GLA alpha-galactosidase A, WT wild type
Methodology: the enzyme activity of alpha-galactosidase was performed in whole blood was performed using dried blood filter paper; the determination of LysoGb3 in plasma was performed by tandem mass spectrometry (MS/MS) [26]; genetic analysis of the GLA gene was performed by Sanger sequencing

ISSN: 1471-2369