The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program
Moiseev S. V., Fomin V. V., Savostyanov K., Pushkov A., Moiseev A., Svistunov A. A., Namazova-Baranova L. S.
Nephron
Vol.141, Issue4, P. 249-255
Опубликовано: 2019
Тип ресурса: Статья
Аннотация:
Aim: To evaluate the prevalence and clinical features of Fabry disease in patients with end-stage renal disease (ESRD) undergoing chronic hemodialysis. Methods: α-Galactosidase A activity was measured in the dried blood spots by tandem mass spectrometry in 5,572 dialysis patients (63.7[%] males). Diagnosis of Fabry disease was confirmed by sequencing of the GLA gene and by evaluating the globotriaosylsphingosine level in the dried blood spots. Results: Fabry disease was diagnosed in 20 (0.36[%]) patients at the median age of 43 years (28; 58). There were 19 males and 1 female. The prevalence of Fabry disease in dialysis patients was 0.53[%] in males and 0.05[%] in females. However, it was higher in males aged 30-49 years. Seventeen different GLA mutations were identified; 5 of them were novel. The median age at the initiation of hemodialysis was similar between patients with missense and nonsense mutations. Sixteen patients (80.0[%]) presented with typical symptoms of Fabry disease from childhoo
Ключевые слова:
Dialysis; Fabry disease; Screening
alpha galactosidase; alpha galactosidase; adult; anhidrosis; Article; brain ischemia; cerebrovascular accident; clinical feature; dried blood spot testing; end stage renal disease; enzyme replacement; Fabry disease; female; gene sequence; genetic screening; heart left ventricle hypertrophy; hemangiokeratoma; hemodialysis; hemodialysis patient; human; major clinical study; male; measurement; missense mutation; neuropathic pain; nonsense mutation; prevalence; priority journal; screening; sudden cardiac death; tandem mass spectrometry; adolescent; Fabry disease; genetics; hemodialysis; middle aged; pathology; Russian Federation; young adult; Adolescent; Adult; alpha-Galactosidase; Fabry Disease; Female; Humans; Male; Middle Aged; Prevalence; Renal Dialysis; Russia; Young Adult
Язык текста: Английский
ISSN: 2235-3186
Moiseev S. V. Sergej Valentinovich 1960-
Fomin V. V. Viktor Viktorovich 1978-
Savostyanov K.
Pushkov A.
Moiseev A.
Svistunov A. A. Andrej Alekseevich 1965-
Namazova-Baranova L. S. Lejla Sejmurovna 1963-
Моисеев С. В. Сергей Валентинович 1960-
Фомин В. В. Виктор Викторович 1978-
Савостянов К.
Пушков А.
Моисеев А.
Свистунов А. А. Андрей Алексеевич 1965-
Намазова-Баранова Л. С. Лейла Сеймуровна 1963-
The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program
Текст визуальный непосредственный
Nephron
S. Karger AG
Vol.141, Issue4 P. 249-255
2019
Статья
Dialysis Fabry disease Screening
alpha galactosidase alpha galactosidase adult anhidrosis Article brain ischemia cerebrovascular accident clinical feature dried blood spot testing end stage renal disease enzyme replacement Fabry disease female gene sequence genetic screening heart left ventricle hypertrophy hemangiokeratoma hemodialysis hemodialysis patient human major clinical study male measurement missense mutation neuropathic pain nonsense mutation prevalence priority journal screening sudden cardiac death tandem mass spectrometry adolescent Fabry disease genetics hemodialysis middle aged pathology Russian Federation young adult Adolescent Adult alpha-Galactosidase Fabry Disease Female Humans Male Middle Aged Prevalence Renal Dialysis Russia Young Adult
Aim: To evaluate the prevalence and clinical features of Fabry disease in patients with end-stage renal disease (ESRD) undergoing chronic hemodialysis. Methods: α-Galactosidase A activity was measured in the dried blood spots by tandem mass spectrometry in 5,572 dialysis patients (63.7[%] males). Diagnosis of Fabry disease was confirmed by sequencing of the GLA gene and by evaluating the globotriaosylsphingosine level in the dried blood spots. Results: Fabry disease was diagnosed in 20 (0.36[%]) patients at the median age of 43 years (28; 58). There were 19 males and 1 female. The prevalence of Fabry disease in dialysis patients was 0.53[%] in males and 0.05[%] in females. However, it was higher in males aged 30-49 years. Seventeen different GLA mutations were identified; 5 of them were novel. The median age at the initiation of hemodialysis was similar between patients with missense and nonsense mutations. Sixteen patients (80.0[%]) presented with typical symptoms of Fabry disease from childhoo