First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia
BACKGROUND No cases of Fabry disease (FD) have been reported thus far in Malaysia. We aimed to report the demographic characteristics, clinical manifestations, molecular results, and treatment outcomes of 2 FD cases. This study was a retrospective review of 2 family clusters of FD on follow-up in Sarawak, Malaysia. CASE REPORT Two index patients were confirmed to have FD. Index patient 1, who had nephrotic-range proteinuria and cornea verticillata, carried a variant within exon 4 of the GLA gene: c.610 T>C (p.Trp204Arg). Agalsidase beta (Fabrazyme®) enzyme replacement therapy was initiated, with the absence of neutralizing antibody after 24 months. No hypersensitivity or adverse reactions were reported. The patient's proteinuria and renal function remained stable. Other family members who carried the same mutation were asymptomatic. Index patient 2, who had residual activity of alpha-galactosidase A and a normal globotriaosylsphingosine level, carried a novel GLA mutation of c.548-5T>A. He was diagnosed with end-stage renal disease on regular dialysis and had nonspecific headache with 1 episode of seizure a few years prior to FD genetic screening. One brother had chronic neuropathic pain but refused further investigations. Other family members who had the same mutation were asymptomatic. This mutation has never been reported in literature, and its pathogenicity warrants further studies. CONCLUSIONS It is of utmost importance to increase awareness of FD among clinicians, so that appropriate screening may be done to determine its true prevalence and prompt treatment can be initiated early.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2021 |
|---|---|
| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:22 |
|---|---|
| Enthalten in: |
The American journal of case reports - 22(2021) vom: 06. Aug., Seite e932923 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Tang, Andy Sing Ong [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
|---|
| Anmerkungen: |
Date Completed 09.08.2021 Date Revised 24.08.2021 published: Electronic Citation Status MEDLINE |
|---|
| doi: |
10.12659/AJCR.932923 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM32898339X |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM32898339X | ||
| 003 | DE-627 | ||
| 005 | 20231225204121.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.12659/AJCR.932923 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1096.xml |
| 035 | |a (DE-627)NLM32898339X | ||
| 035 | |a (NLM)34354036 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Tang, Andy Sing Ong |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia |
| 264 | 1 | |c 2021 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 09.08.2021 | ||
| 500 | |a Date Revised 24.08.2021 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a BACKGROUND No cases of Fabry disease (FD) have been reported thus far in Malaysia. We aimed to report the demographic characteristics, clinical manifestations, molecular results, and treatment outcomes of 2 FD cases. This study was a retrospective review of 2 family clusters of FD on follow-up in Sarawak, Malaysia. CASE REPORT Two index patients were confirmed to have FD. Index patient 1, who had nephrotic-range proteinuria and cornea verticillata, carried a variant within exon 4 of the GLA gene: c.610 T>C (p.Trp204Arg). Agalsidase beta (Fabrazyme®) enzyme replacement therapy was initiated, with the absence of neutralizing antibody after 24 months. No hypersensitivity or adverse reactions were reported. The patient's proteinuria and renal function remained stable. Other family members who carried the same mutation were asymptomatic. Index patient 2, who had residual activity of alpha-galactosidase A and a normal globotriaosylsphingosine level, carried a novel GLA mutation of c.548-5T>A. He was diagnosed with end-stage renal disease on regular dialysis and had nonspecific headache with 1 episode of seizure a few years prior to FD genetic screening. One brother had chronic neuropathic pain but refused further investigations. Other family members who had the same mutation were asymptomatic. This mutation has never been reported in literature, and its pathogenicity warrants further studies. CONCLUSIONS It is of utmost importance to increase awareness of FD among clinicians, so that appropriate screening may be done to determine its true prevalence and prompt treatment can be initiated early | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a alpha-Galactosidase |2 NLM | |
| 650 | 7 | |a EC 3.2.1.22 |2 NLM | |
| 700 | 1 | |a Wong, Qi Ying |e verfasserin |4 aut | |
| 700 | 1 | |a Pao Lin Ting, Ingrid |e verfasserin |4 aut | |
| 700 | 1 | |a Selvesten, Panting |e verfasserin |4 aut | |
| 700 | 1 | |a Yeo, Siaw Tze |e verfasserin |4 aut | |
| 700 | 1 | |a Chew, Lee Ping |e verfasserin |4 aut | |
| 700 | 1 | |a Fam, Tem Lom |e verfasserin |4 aut | |
| 700 | 1 | |a Tan, Clare Hui Hong |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t The American journal of case reports |d 2009 |g 22(2021) vom: 06. Aug., Seite e932923 |w (DE-627)NLM226518345 |x 1941-5923 |7 nnns |
| 773 | 1 | 8 | |g volume:22 |g year:2021 |g day:06 |g month:08 |g pages:e932923 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.12659/AJCR.932923 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 22 |j 2021 |b 06 |c 08 |h e932923 | ||