2018, Cilt 27, Sayı 3, Sayfa(lar) 324-326
A Rare Cause of Secondary Hypertension; Fabry Disease
DOI 10.5262/tndt.2018.2968
Kültigin TÜRKMEN, İsmail BALOĞLU, Nedim Yılmaz SELÇUK, Halil Zeki TONBUL
Necmettin Erbakan Üniversitesi, Tıp Fakültesi, Nefroloji Bilim Dalı, Konya, Türkiye
Keywords: Hypertension, Fabry disease, α-galactosidase

Fabry disease is an x-linked recessive metabolic storage disorder due to the deficiency of lysosomal α-galactosidase A, and the subsequent accumulation of glycosphingolipids, throughout the body. Patients usually present with decreased sweating (anhidrosis or hypohidrosis), reddish-purple skin rash in the bathing trunk area (angiokeratomas), personal or family history of “burning” or “hot” pain in the hands and feet, particularly during fevers (acroparesthesias), cornea verticillata and proteinuria. In addition, patients can rarely present with severe hypertension. Here, we have reported a Fabry’s patient who presented with severe hypertension as an unusual presentation.

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