Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report

Table 1 Clinical features

Variables	II-3	II-5	II-7	II-1	III-2
Sex	Female	Female	Female	Male	Male
Age at diagnosis	56	52	47	63	22
Mutation	NM_000169.2:c.348delG:p.G116fs	NM_000169.2:c.348delG:p.G116fs	NM_000169.2:c.348delG:p.G116fs	-	NM_000169.2:c.348delG:p.G116fs
Genotype	Heterozygote	Heterozygote	Heterozygote	Wild Type	Hemizygote
Enzymatic activity (nmol/h/mg protein)	N/A	42	34	60	1
Cardiovascular symptoms
Heart rhythm	AF	AF	AF	SR	SR
LVPWD (mm)	9.6	9.9	13.4	9.8	14.5
IVST (mm)	16	15.8	14.5	9.8	17.4
EF (%)	28.1	58.3	55.6	67.3	61.5
hsTNI (ng/mL)	0.21	0.59	0.11	< 0.01	< 0.110
NT-proBNP (pg/mL)	> 25000	1124	3242	< 10	586
Kidney symptoms
Serum creatinine(μmol/L)	258	57	63	N/A	344
Neuralgia	+	-	-	-	+
Neurological symptoms
Neuropathic pain	-	-	-	-	+
Cerebrovascular involvement	+	+	-	-	-
Gastrointestinal symptoms
Nausea	+	-	-	-	-
Abdominal Pain	+	-	-	-	-
Chronic diarrhea	+	-	-	-	-
Skin
Angiokeratoma	+	-	-	-	+

ECG: Electrocardiogram; AF: Atrial fibrillation; SR: Sinus rhythm; LVPWD: Left ventricular posterior wall dimensions; IVST: Interventricular septal diastolic thickness; EF: Ejection fraction; hsTNI: High-sensitivity cardiac troponin I; NT-proBNP: N terminal pro B type natriuretic peptide.