POS-420 PREVALENCE OF FABRY DISEASE IN CHRONIC KIDNEY DISEASE PATIENTS INCLUDING PATIENTS ON DIALYSIS IN KOREA

ABSTRACT Introduction: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. Objectives: to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named “Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil”. Methods: a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic testing. Results: Among 1214 interviewed relatives, 115 (9.47%) were diagnosed with FD, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological, cerebrovascular diseases, and depression in 0.9% of individuals. Intolerance to physical exercise and tiredness were the most observed symptoms (1.7%), followed by periodic fever, intolerance to heat or cold, diffuse pain, burn sensation or numbness in hands and feet, reduced or absent sweating, as well as abdominal pain after meals in 0.9%. Conclusion: We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.

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Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2014.08.007 ◽

2015 ◽

Vol 114 (2) ◽

pp. 242-247 ◽

Cited By ~ 28

Author(s):

Linda van der Tol ◽

Einar Svarstad ◽

Alberto Ortiz ◽

Camilla Tøndel ◽

João Paulo Oliveira ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Fabry Disease ◽

Correct Diagnosis

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Valvular heart disease complicating advanced Fabry disease: Association with chronic kidney disease

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2018.12.392 ◽

2019 ◽

Vol 126 (2) ◽

pp. S151-S152

Author(s):

Michael L. West ◽

Mathieu C. Castonguay ◽

Emily Chisholm ◽

Kaye LeMoine

Keyword(s):

Chronic Kidney Disease ◽

Heart Disease ◽

Kidney Disease ◽

Fabry Disease ◽

Valvular Heart Disease ◽

Disease Association

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Mulberry bodies in the urine sediment of a patient with chronic kidney disease

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio ◽

10.1515/almed-2020-0028 ◽

2020 ◽

Vol 1 (3) ◽

Author(s):

Carlos Martínez-Figueroa ◽

Karen Cortés-Sarabia ◽

Hilda Guadalupe Catalán-Nájera ◽

Micaela Martínez-Alarcón

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Fabry Disease ◽

Hereditary Disease ◽

Urine Sediment ◽

Enzyme Replacement ◽

Laboratory Test Results ◽

Organic Dysfunction ◽

History Of ◽

Gla Gene

AbstractObjectivesFabry disease is a hereditary disease caused by a mutation in the α-galactosidase A (GLA) gene resulting in the accumulation of glycosphingolipids in different organs. Timely diagnosis is crucial for the early initiation of treatment to avoid organic dysfunction secondary to lipid accumulation. In view of the above, a number of studies have been performed to assess the role of mulberry bodies as a new diagnostic tool. In this study, we report a case demonstrating the utility of this test.Case presentationWe report the case of a woman of advanced age without a history of chronic disease with symptoms consistent with urinary tract infection (dysuria, pelvic pain, and frequent urination). Based on laboratory test results, a diagnosis of anemia with concomitant chronic kidney disease was established. Urine test revealed microhematuria, proteinuria, urine sediment, and the presence of lipid particles consistent with mulberry bodies.ConclusionsThe identification of mulberry bodies and cells in urine sediment is an easy-to-use tool potentially useful in diagnosing Fabry disease, which may contribute to initiate enzyme replacement therapy in a timely manner and reduce systemic deterioration.

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Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfab234 ◽

2021 ◽

Author(s):

Akiko Nagata ◽

Makoto Nasu ◽

Yusuke Kaida ◽

Yosuke Nakayama ◽

Yuka Kurokawa ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Fabry Disease

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PRO23 An Observational Cohort Analysis on the Economic IMPACT of Chronic Kidney Disease in Patients with Fabry Disease

Value in Health ◽

10.1016/j.jval.2021.04.1008 ◽

2021 ◽

Vol 24 ◽

pp. S201

Author(s):

E. Wallace ◽

N. Sacks ◽

P. Cyr ◽

M. Baker-Wagner

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Fabry Disease ◽

Economic Impact ◽

Cohort Analysis ◽

Observational Cohort

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SCREENING DIAGNOSTICS OF FABRIC DISEASE AMONG PATIENTS WITH CHRONIC KIDNEY DISEASE IN THE NORTH-WESTERN REGION OF RUSSIA

Nephrology (Saint-Petersburg) ◽

10.24884/1561-6274-2019-23-1-51-59 ◽

2019 ◽

Vol 23 (1) ◽

pp. 51-59

Author(s):

K. A. Vishnevskii ◽

E. V. Frolova ◽

O. M. Domashenko ◽

T. V. Proshina ◽

O. V. Makarova ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Enzyme Replacement Therapy ◽

Fabry Disease ◽

Replacement Therapy ◽

Russian Federation ◽

Screening Programs ◽

Enzyme Replacement ◽

West Region ◽

Gla Gene

Fabry disease (FD) is a progressive multi-organ disease leading to the development of cardiovascular and cerebrovascular complications and progression of renal failure. Nonspecificity of clinical signs often leads to late diagnosis of the FD that causes high diagnostic relevance of screening in high risk groups, particularly among patients with chronic kidney disease (CKD). According to the results of screening programs in many countries, the average prevalence of FD among patients with CKD is about 0.26%. THE AIM of this study was to investigate the prevalence of FD in patients with CKD in the northern west region of Russian Federation. PATIENTS AND METHODS. This prospective study assessed α-galactosidase A (α-Gal A) activity in dried blood spots in 1835 stage 1-5 CKD (85% – dialysis, 15% – pre-dialysis) patients, 74% males, mean age 55±12 years. The survey was carried out regardless of gender, age and primary diagnosis leading to CKD. The activity of α-Gal A more than 1.89 umol/l/hr was considered as normal. In the case of identifying the decreased activity of the enzyme the diagnosis was confirmed by GLA gene mutation analysis. RESULTS. The average level of α-Gal A was 5.39±2.69 umol/l/h. The level of α-Gal A was significantly higher in patients with pre-dialysis stages of CKD compared with patients receiving dialysis (7.5±3 vs 4.3±2.3 umol/l/h, p<0.001) as well as in males higher than in females (5.9±3.4 vs 3.4±2.3 umol/l/h, p <0.001). The decrease in α-Gal A activity was detected in 6 patients, of which 3 had the GLA gene mutations (c.427G>A, с.818Т>С, c.895G>C). One patient (p.508G> T) had a confirmed FD and received an enzyme-replacement therapy at the time of screening. All patients with identified FD were males treated by hemodialysis. Thus, the prevalence of FD in patients with CKD C5d was 1:392 (0.26%). A survey of relatives revealed the disease in two additional cases. CONCLUSION. The prevalence of Fabry disease in selected CKD patients of northern west region of Russian Federation is in the mean worldwide range. In all cases, the FD was not timely diagnosed, leading to serious organ damage and delaying the onset of enzyme replacement therapy. Thus, the screening of FD is necessary at the early stages of CKD.

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