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08 June 2021: Articles

First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia

Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Andy Sing Ong Tang A* , Qi Ying Wong B , Ingrid Pao Lin Ting B , Panting Selvesten B , Siaw Tze Yeo B , Lee Ping Chew D , Tem Lom Fam D , Clare Hui Hong Tan E

DOI: 10.12659/AJCR.932923

Am J Case Rep 2021; 22:e932923

Table 1. Diagnosis, characteristics, and clinical presentation of index patients with Fabry disease.

Index patient
Age at diagnosis, y3962
CKD stage at diagnosis (KDIGO classification criteria)3b5
eGFR (CKD-epi formula), mL/min/1.73 m395
Daily protein loss, g3.15Anuria
Dialysis dependent+
Eye abnormalitiesCornea verticillata
Gastrointestinal symptoms
Time of first symptoms until DBS, y94
GLA activity, µmol/L/h 02.4
Lyso-Gb3 level, ng/mL 22.01.2
mutationc.610 T>C [p.Trp204Arg]c.548-5T>A
Kidney biopsy+NP
Pro-BNP, pg/mL821>9000
Echocardiography findings
  Patterns of LVHConcentricConcentric
  Interventricular wall thickness, mm13.514.4
    Posterior wall thickness, mm14.416.1
    LV end-diastolic diameter, mm49.151.8
    LV end-systolic diameter, mm31.331.9
    Ejection fraction, %64.565.1
    LV mass index, g/m177270
Number of affected relatives75
On enzyme replacement therapyYes (Fabrazyme (agalsidase beta), 1 mg/kg every 2 weeksNo
‘–‘ – negative; ‘+’ – positive; CKD – chronic kidney disease; DBS – dried blood spot; eGFR – estimated glomerular filtration rate; KDIGO – Kidney Disease: Improving Global Outcomes; LV – left ventricle; NP – not performed; Pro-BNP – pro-B-type natriuretic peptide.
* Reference value: ≥2.8 µmol/L/h;
** Reference value: ≤3.5 ng/mL.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923