Introduction:
Fabry's disease is a rare hereditary lysosomal storage disorder linked to the X chromosome, resulting from a deficiency of the enzyme α-galactosidase A. This deficiency leads to the accumulation of the neutral glycosphingolipid globotriaosylceramide (GL-3) in various organs.
Diagnosis of Fabry disease (FD) is established through clinical evaluation, reduced activity of α-galactosidase A (GALA), and sequencing of cDNA or genomic DNA (gDNA). The c.644A > G mutation has predominantly been identified in patients with the cardiac variant of FD
Methods:
This report describes an unusual case of Fabry's disease (c.644A > G mutation) with a history of atopy and acute interstitial nephritis
Results:
A 65-year-old women admitted to our hospital on June, 2024 with a history of fever, a skin rash and vomiting.
Family history revealed that his grandson was being followed for Autisme Spectrum Disorder secondary to Fabry disease.
Her past medical history revealed hypertension along with a long-standing history of anhidrosis and acroparesthesia.
In February 2024, the patient was admitted to the general surgery department for the management of acute pancreatitis, stage E. An allergy to ertapenem has been detected.
One month later, the patient presented a skin rash and uremic syndrome, with creatinine levels reaching 1000 micromol/l. A recent intake of allopurinol was noted.
The complete blood count revealed eosinophilia with a level of 1000 micromol/L. Urinalysis revealed hematuria, proteinuria and Leukocyturia.
Renal ultrasound did not reveal any abnormalities.
The echocardiogram revealed hypertensive heart disease.
Fabry disease was suspected due to the presence of anhidrosis, acroparaesthesia and the family history of FD. A genetic investigation was conducted, confirming the GLA gene mutation (heterozygous for the c.644A>G, p. Asn215Ser mutation). This mutation primarily leads to cardiac involvement.
A renal biopsy revealed a diagnosis of immuno-allergic nephropathy, with concurrent histological findings suggestive of Fabry renal disease and the patient was started on corticosteroid therapy at 0.5 mg/kg/day, leading to a return to baseline creatinine levels within one month.
Conclusions:
This case emphasizes the importance of considering Fabry disease in patients with unexplained anhidrosis, acroparesthesia, and renal dysfunction, even in the absence of classic cardiac manifestations. Early diagnosis and appropriate management, including enzyme replacement therapy and potential immunosuppression, are crucial for improving outcomes in patients with Fabry disease.
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.