Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation
J. inborn errors metab. screen
;
8: e20200007, 2020. tab, graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1135006
ABSTRACT
Abstract In more than 800 GLA gene mutations causing Fabry Disease (FD), renal involvement vary according to the α-GAL A mutation. The aim is to describe the genotype/phenotype variations of renal complications in two siblings with confirmed FD with the mutation p.Q279X in exon 6. We present a retrospective study of two venezuelan male siblings, ages 34 (patient 1) and 33 (patient 2), evaluated by general lab tests, renal ultrasound, renal scintigram , and renal biopsy. Fabry disease diagnose was made by α-galactosidase A activity determined in dried blood spot. Genomic DNA was sequenced by Sanger method. Patient 1 developed CKD grade 5 and high blood pressure, treated by hemodialysis during 8 years. Patient 2 showed GFR >60 ml/min, and proteinuria less than 600 mg/24H. Renal biopsy showed segmental sclerotic lesions and hypertrophic podocytes with vacuolated cytoplasm. Both patients received ERT every two weeks since 2003. Patient 1 died because dialysis complications (hyperparathyroidism, cardiomyopathy). The genotype/phenotype variation of the c.835C>T mutation (p.Gln279Ter. Q279X) in exon 6 of the GLA gene can express an important renal variation with a wide range of clinical manifestations that cannot be predicted, therefore, an early nephrological evaluation and periodic follow-up of these patients are necessary.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Observational study
/
Risk factors
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2020
Type:
Article
Affiliation country:
Argentina
/
Venezuela
Institution/Affiliation country:
Central University of Venezuela/VE
/
Laboratorio Neuroquímica Dr Nestor Chamoles/AR
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