We report the case of a 47-year-old male with no family history of PE who was followed up in outpatient clinic of our service since 2002 for proteinuria.
In 2006, abdominal ultrasound and magnetic resonance imaging (MRI) showed poor corticomedullary differentiation and the presence of multiple bilateral parapyellic cysts.
In 2007, due to deterioration of renal function with serum creatinine levels of 1.6 mg/dl and proteinuria of 1 g/24 h, it was decided to perform an ultrasound-guided renal biopsy, which revealed consistent changes with moderate-severe chronic interstitial nephritis.
In 2009, the patient was admitted due to edema and exertional dyspnea.
The examination showed no skin lesions suggestive of angiokeratomas in the skin.
Blood analysis at admission showed a serum creatinine of 1.7 mg/dl and proteinuria of 2.4 g/24 h.
Echocardiographic and cardiac MRI findings showed probable cardiomyopathy due to deposition disease.
Electromyography showed signs of small fibers neuropathy, with changes in autonomic function.
A sweat test was performed which revealed a verticillate cornea after stimulation with pilocarpine.
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The clinical suspicion of PE was determined by determining the level of activity of alpha derivatives.a in leukocytes and plasma, using a fluorogenic substrate 4-degreeylumbelliferyl α-D-feedbacks
GLA activity was 0.5 nmol/h/ml (2% of normal) in plasma, and /4.2 nmol/h/mg protein (10.7% of normal) in leukocytes, confirming the diagnosis of PE.
The enzyme activity was normal in the studied relatives of the patient (mother and sister).
The genetic study was carried out, the genomic deoxyribonucleic acid (DNA) was extracted from dry blood spot and the coding gene fragments were amplified by PCR.
Direct sequencing of the 7 exons of the GLA gene was performed using a capillary sequencer (ABI PRISM® 310 Genetic Analyzer).
The analysis determined that the patient was homozygous for a new c.1182del mutation (deletion of a single nucleotide) in exon 7 of the alpha-GLA A gene and his sister were negative.
The remaining siblings were not available for the study, but none of them had manifested clinical symptoms associated with the disease to date.
The patient has a male child, so the mutation is not transmitted to the offspring.
Hormonal replacement therapy with agalsidase alfa (Replagal®) was started.
During follow-up, edema and neuropatic pain improved, but renal function progressively worsened to end-stage renal failure over a 3-year period.
The patient started hemodialysis, and one year later, he received a living donor kidney graft from his wife.
During post-transplant follow-up, the patient presented stable renal function with an estimated glomerular filtration rate of 45 ml/min/1.73 m2, with proteinuria of 200 mg/24 h.
Follow-up biopsies were performed at 3 months and 1 year, which showed no Gb3 deposits in renal tissue.
As for the cardiac evolution, it has clinically presented the appearance of dyspnea on exertion, in addition to worsening of myocardial fibrosis, assessed by cardiac resonance performed in February 2014.
Since then, it was decided to change the treatment to beta-galsidase (Fabrates®).
