Women with Fabry disease were found to have two conditions: a heart disease called dilated cardiomyopathy (DCM) and an autoimmune kidney disease called immunoglobulin A nephropathy (IgAN). This is a rare combination.

“To our knowledge, this is the first report of such a case,” the researchers wrote in their study.Concomitant Fabry disease and immunoglobulin A nephropathy: a case report,” was published in BMC Nephrology.

Fabry disease is a genetic disease caused by a gene mutation. G.L.A. This gene causes toxic accumulation of certain fat molecules called Gb3 and Lyso-Gl3 in organs, usually the kidneys. The kidneys are also the main site of damage in IgAN, an immune disease characterized by the accumulation of a specific type of antibody (immunoglobulin A or IgA) within the kidneys.

DCM is a condition in which the left ventricle, the part of the heart that pumps oxygen-rich blood to the body, becomes enlarged.Mutations in certain genes TTN and bag 3 Genes can set the stage for DCM to develop.

Recommended books

Fabry-IgAN combination seen in China and Japan

Chinese scientists reported a case of a 60-year-old woman who had all three symptoms. The woman had a history of enlarged left ventricle and sought medical attention complaining of swelling of her face and legs and chest tightness when walking.

Doctors performed a series of laboratory tests, including a kidney biopsy, which showed signs of damage consistent with both Fabry disease and IgAN.

Although it is rare for Fabry disease and IgAN to occur together in the same person, it has happened before, the researchers wrote. Most reports of co-occurrence of Fabry disease and IgAN are from China or Japan, where the proportion of IgAN is relatively high.

Genetic testing revealed that the woman has the mutation that causes Fabry disease. G.L.A. Both genes and DCM-associated mutations TTN and bag 3 gene.It turns out her 35-year-old son also has Fabry disease. G.L.A. mutation.

“To our knowledge, this is the first concurrent report. [Fabry disease] IgAN containing these mutations TTN and bag 3 patient’s genes [an enlarged left ventricle]” the researchers wrote.

The patient was treated with losartan, a blood pressure drug. She refused enzyme replacement therapy for Fabry disease, citing financial constraints. Her heart and kidney function remained stable during the follow-up period.