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

2015 ◽  
Vol 114 (2) ◽  
pp. 242-247 ◽  
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

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

2021 ◽  
Vol 6 (4) ◽  
pp. S181
Author(s):  
E. CHO ◽  
J.T. Park ◽  
T.H. Yoo ◽  
S.W. Kim ◽  
C.W. Park ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Fabry Disease

Data Science and real world health data improve precision for diagnosis: Acute Kidney Injury, acute-on-chronic and Chronic Kidney Disease (Preprint)

2021 ◽  
Author(s):  
Karen Triep ◽  
Alexander Benedikt Leichtle ◽  
Martin Meister ◽  
Georg Martin Fiedler ◽  
Olga Endrich
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Data Science ◽  
Query Language ◽  
Correct Diagnosis ◽  
Kidney Injury ◽  
Data Driven ◽  
World Health ◽  
Discharge Data ◽  
The Individual

BACKGROUND The criteria for the diagnosis of kidney disease outlined in “The Kidney Disease: Improving Global Outcomes (KDIGO)” are based on a patient’s current, historical and baseline data. The diagnosis of acute (AKI), chronic (CKD) and acute-on-chronic kidney disease requires past measurements of creatinine and back-calculation and the interpretation of several laboratory values over a certain period. Diagnosis may be hindered by unclear definition of the individual creatinine baseline and rough ranges of norm values set without adjustment for age, ethnicity, comorbidities and treatment. Classification of the correct diagnosis and the sufficient staging improves coding, data quality, reimbursement, the choice of therapeutic approach and the patient’s outcome. OBJECTIVE With the help of a complex rule-engine a data-driven approach to assign the diagnoses acute, chronic and acute-on-chronic kidney disease is applied. METHODS Real-time and retrospective data from the hospital’s Clinical Data Warehouse of in- and outpatient cases treated between 2014 – 2019 is used. Delta serum creatinine, baseline values and admission and discharge data are analyzed. A KDIGO based standard query language (SQL) algorithm applies specific diagnosis (ICD) codes to inpatient stays. To measure the effect on diagnosis, Text Mining on discharge documentation is conducted. RESULTS We show that this approach yields an increased number of diagnoses as well as higher precision in documentation and coding (unspecific diagnosis ICD N19* coded in % of N19 generated 17.8 in 2016, 3.3 in 2019). CONCLUSIONS Our data-driven method supports the process and reliability of diagnosis and staging and improves the quality of documentation and data. Measuring patients’ outcome will be the next step of the project.

Primary health care decision making in pre-dialysis chronic kidney disease

2017 ◽  
Vol 14 (4) ◽  
pp. 297-309
Author(s):  
Sandra Joan Campbell-Crofts ◽  
Janet Roden
Keyword(s):  
Health Care ◽  
Chronic Kidney Disease ◽  
Primary Health Care ◽  
Kidney Disease ◽  
Qualitative Interviews ◽  
Correct Diagnosis ◽  
Primary Health Care System ◽  
Health Care Decisions ◽  
Primary Health ◽  
Kidney Health

Objectives This qualitative descriptive study explored the primary health care decisions of a group of 12 Australians in Stages 3B to 5 with chronic kidney disease in the preservation of kidney health. Methods Questioning within the qualitative interviews focused on gaining an understanding of the participants’ perceptions of their kidney health and the decisions made as a consequence of their interaction within the Australian primary health care system. Results Participants were dependent on their General Practitioner to recognise their symptoms, make the correct diagnosis and authorise the correct referral for specialist nephrology care. Three pathways in this process were identified: ‘easy’; ‘difficult’ and ‘protracted’. Clinician failure to correctly attribute symptoms to chronic kidney disease influenced the ‘difficult’ pathway, while failure to adequately communicate kidney health status influenced the ‘protracted’ pathway. Use of the language of ‘recovery’, ‘stability’ and ‘protection’ held meaning to the participants in gaining an understanding of their kidney health. Discussion Identifying pathways to diagnosis and referral can raise awareness of the challenges kidney health consumers face in their participation within the primary health care arena. Using consumer meaningful language improves the capacity of these consumers to engage in their own primary health care agenda.

scholarly journals SP031SCREENING FABRY DISEASE IN PATIENTS WITH CHRONIC KIDNEY DISEASE WITHOUT RENAL REPLACEMENT THERAPY: PRELIMINARY RESULTS OF A MULTICENTER STUDY

2015 ◽  
Vol 30 (suppl_3) ◽  
pp. iii390-iii391
Author(s):  
Yavuz Yenicierioglu ◽  
Hakan Akdam ◽  
Belda Dursin ◽  
Alper Alp ◽  
Funda Saglam Iyiler ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Renal Replacement Therapy ◽  
Kidney Disease ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Multicenter Study ◽  
Preliminary Results

scholarly journals Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task

2020 ◽  
Author(s):  
Luciana Senra de Souza Sodré ◽  
Rosália Maria Nunes Henriques Huaira ◽  
Fernando Antônio Basile Colugnati ◽  
Moises Carminatti ◽  
Luciane Senra de Souza Braga ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Fabry Disease ◽  
Periodic Fever ◽  
Family Members ◽  
Signs And Symptoms ◽  
Cerebrovascular Diseases ◽  
Systemic Hypertension ◽  
Cross Sectional ◽  
Hands And Feet

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.

scholarly journals Chronic Hyperkalemia in Cardiorenal Patients: Risk Factors, Diagnosis, and New Treatment Options

2018 ◽  
Vol 9 (1) ◽  
pp. 8-21 ◽  
Author(s):  
Luca Di Lullo ◽  
Claudio Ronco ◽  
Antonio Granata ◽  
Ernesto Paoletti ◽  
Vincenzo Barbera ◽  
...  
Keyword(s):  
Risk Factors ◽  
Heart Failure ◽  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Medical Condition ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
New Treatment ◽  
Poor Outcomes ◽  
Careful Management

Chronic hyperkalemia (HK) is a serious medical condition that often manifests in patients with chronic kidney disease (CKD) and heart failure (HF) leading to poor outcomes and necessitating careful management by cardionephrologists. CKD, HF, diabetes, and renin-angiotensin-aldosterone system inhibitors use is known to induce HK. Current therapeutic options are not optimal, as pointed out by a large number of CKD and HF patients with HK. The following review will focus on the main risk factors for developing HK and also aims to provide a guide for a correct diagnosis and present new approaches to therapy.

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

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

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

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.

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

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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