Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man : Fabry Disease With a Novel Mutation of GLA Gene
Copyright © 2020, Gaballa et al..
Fabry disease (FD) is an X-linked recessive lysosomal storage disease caused by a mutation of the galactosidase alpha (GLA) gene, leading to deficiency of α-galactosidase A (alpha-Gal A). This deficiency results in a progressive, multiorgan accumulation of glycolipids, most notably globotriaosylceramide (Gb3), leading to multiorgan failure and subsequently premature death. Gb3 accumulation in the podocytes, epithelial, and mesangial cells of the glomeruli results in progressive renal disease and eventually renal failure and hemodialysis (HD). There are two types of FD: early-onset classical type 1 and late-onset type 2. Although nearly a thousand mutations of the GLA gene have been identified, the majority of them are of unknown significance. Herein we report the case of a 25-year-old Caucasian male with no significant medical history who presented with peripheral neuropathy and end-stage renal failure, requiring HD. He was diagnosed with FD based on the electron microscopy findings of renal biopsy and severely reduced alpha-Gal A activity (<0.4 nmol/mL/hour). A novel mutation of c.281G>T; p.Cys94Phe was identified. On discharge from our facility, he was referred to a renal transplant center and genetic counseling.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2020 |
|---|---|
| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:12 |
|---|---|
| Enthalten in: |
Cureus - 12(2020), 7 vom: 11. Juli, Seite e9136 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Gaballa, Salem [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
α-galactosidase a activity |
|---|
| Anmerkungen: |
Date Revised 28.09.2020 published: Electronic Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.7759/cureus.9136 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM312758324 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM312758324 | ||
| 003 | DE-627 | ||
| 005 | 20231225145113.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.7759/cureus.9136 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1042.xml |
| 035 | |a (DE-627)NLM312758324 | ||
| 035 | |a (NLM)32699723 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Gaballa, Salem |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man |b Fabry Disease With a Novel Mutation of GLA Gene |
| 264 | 1 | |c 2020 | |
| 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 Revised 28.09.2020 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Copyright © 2020, Gaballa et al. | ||
| 520 | |a Fabry disease (FD) is an X-linked recessive lysosomal storage disease caused by a mutation of the galactosidase alpha (GLA) gene, leading to deficiency of α-galactosidase A (alpha-Gal A). This deficiency results in a progressive, multiorgan accumulation of glycolipids, most notably globotriaosylceramide (Gb3), leading to multiorgan failure and subsequently premature death. Gb3 accumulation in the podocytes, epithelial, and mesangial cells of the glomeruli results in progressive renal disease and eventually renal failure and hemodialysis (HD). There are two types of FD: early-onset classical type 1 and late-onset type 2. Although nearly a thousand mutations of the GLA gene have been identified, the majority of them are of unknown significance. Herein we report the case of a 25-year-old Caucasian male with no significant medical history who presented with peripheral neuropathy and end-stage renal failure, requiring HD. He was diagnosed with FD based on the electron microscopy findings of renal biopsy and severely reduced alpha-Gal A activity (<0.4 nmol/mL/hour). A novel mutation of c.281G>T; p.Cys94Phe was identified. On discharge from our facility, he was referred to a renal transplant center and genetic counseling | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a enzyme replacement therapy | |
| 650 | 4 | |a fabry's disease | |
| 650 | 4 | |a lysosomal storage disease | |
| 650 | 4 | |a painful neuropathy | |
| 650 | 4 | |a renal failure | |
| 650 | 4 | |a α-galactosidase a activity | |
| 700 | 1 | |a AlJaf, Avan |e verfasserin |4 aut | |
| 700 | 1 | |a Lindsay, Jane |e verfasserin |4 aut | |
| 700 | 1 | |a Patel, Kashyap |e verfasserin |4 aut | |
| 700 | 1 | |a Hlaing, Kyaw M |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Cureus |d 2013 |g 12(2020), 7 vom: 11. Juli, Seite e9136 |w (DE-627)NLM24118083X |x 2168-8184 |7 nnns |
| 773 | 1 | 8 | |g volume:12 |g year:2020 |g number:7 |g day:11 |g month:07 |g pages:e9136 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.7759/cureus.9136 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 12 |j 2020 |e 7 |b 11 |c 07 |h e9136 | ||