A case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT)

Table 1 Summary of four patients with Fabry disease

	Sex	Age at diagnosis	Age at ERT start	BMI at diagnosis	α-GAL activity (mmol/h/mg protein)	Cre at diagnosis (mg/dl)	Up at diagnosis (g/day)	HT	DM	Serum lyso-Gb3 (nmol/L) before ERT	Serum lyso-Gb3 (nmol/L) after ERT	Urine Gb3 before ERT	Urine Gb3 after ERT	Gene mutation
Normal value					20–80					<2	<2
Mother	F	53	53	24.4	13	0.51	0.1	−	+	<2	N/A	−	N/A	R301Q (cga→caa)
Patient	M	18	18	29.9	0.5	0.5	1.0	+	−	3.9	3.0	+	+	R301Q (cga→caa)
Sister	F	26	No	43.3	16	0.62	5.5^a	−	+	4.3	N/A	+	N/A	R301Q (cga→caa)
Unrelated	M	34	34	34.4	0	1.49	0.5	−	−	131	N/A	+	N/A	W340X (tgg→tag)

HT hypertension, DM diabetes mellitus, BMI body max index, ERT enzyme replacement therapy, Cre creatinine, Up urinary protein, N/A not available
^aValue was presented as g/gCre

ISSN: 2059-1381