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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
12
Age at diagnosis, y3962
EthnicityMalayChinese
CKD stage at diagnosis (KDIGO classification criteria)3b5
eGFR (CKD-epi formula), mL/min/1.73 m395
Daily protein loss, g3.15Anuria
Dialysis dependent+
Hypertension+
Angiokeratoma+
Neuropathy/acroparesthesia
Eye abnormalitiesCornea verticillata
Gastrointestinal symptoms
Cerebrovascular
Hypohydrosis
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
PhenotypeClassicUnknown
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