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1.
Int J Nephrol ; 2024: 5694131, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38292832

RESUMO

Background: Hyperkalemia is a life-threatening condition in outpatient and emergency departments. Hyperkalemia is associated with more events of major adverse cardiovascular diseases, hospitalization, and death. The aim of this study is to study and assess the prevalence and risk factors for developing hyperkalemia within the Thai population. Method: A cross-sectional observational study of 3,299 unique adult patients (≥18 years) in one calendar year (2021) with at least 1 valid serum potassium (SK) test was conducted in the outpatient department of medicine. Hyperkalemia was determined as SK ≥5.8 mmol/L without hemolysis or technical error. Clinical data and laboratory tests were collected for analysis of risk factors. Result: 2,971 patients (131 hyperkalemia and 2,840 control) were eligible. The annual prevalence of hyperkalemia was 4.41%. The mean ages of patients were 66.5 years in the hyperkalemia group and 55.9 years in the control group. Increasing age had a positive association (r = 0.220, p < 0.001) to risk of hyperkalemia, whereas the estimated glomerular filtration rate (eGFR) had an inverse association with SK level (r = -0.398, p < 0.001). The risk factors for hyperkalemia were patients with age ≥65 years (odds ratio, 2.106; 95% CI, 1.399, 3.171; p < 0.001), presence of diabetes mellitus (DM, odds ratio, 1.541; 95% CI, 1.030, 2.306; p = 0.036), chronic kidney disease (CKD) stage ≥3 (odds ratio, 14.885; 95% CI, 8.112, 27.313; p < 0.001), hemodialysis treatment (odds ratio, 10.170; 95% CI, 5.858, 17.657; p < 0.001), and usage of renin-angiotensin-aldosterone system inhibitors (RAASi, odds ratio, 2.256; 95% CI, 1.440, 3.536; p < 0.001). Conclusion: The risk factors contributing to hyperkalemia were patients with older age, DM, CKD, hemodialysis treatment, and usage of RAASi. Although the usage of RAASi is proven to be a cardiovascular advantage in the elderly, DM, and CKD patients, careful monitoring of SK is strongly advised to optimize patient care.

3.
Am J Med Genet C Semin Med Genet ; 190(1): 109-120, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35289079

RESUMO

Monogenic disorders of the kidney typically affect either the glomerular or tubulointerstitial compartment producing a distinct set of clinical phenotypes. Primary focal segmental glomerulosclerosis (FSGS), for instance, is characterized by glomerular scarring with proteinuria and hypertension while nephronophthisis (NPHP) is associated with interstitial fibrosis and tubular atrophy, salt wasting, and low- to normal blood pressure. For both diseases, an expanding number of non-overlapping genes with roles in glomerular filtration or primary cilium homeostasis, respectively, have been identified. TTC21B, encoding IFT139, however has been associated with disorders of both the glomerular and tubulointerstitial compartment, and linked with defective podocyte cytoskeleton and ciliary transport, respectively. Starting from a case report of extreme early-onset hypertension, proteinuria, and progressive kidney disease, as well as data from the Genomics England 100,000 Genomes Project, we illustrate here the difficulties in assigning this mixed phenotype to the correct genetic diagnosis. Careful literature review supports the notion that biallelic, often hypomorph, missense variants in TTC21B are commonly associated with early-onset hypertension and histological features of both FSGS and NPHP. Increased clinical recognition of this mixed glomerular and tubulointerstitial disease with often mild or absent features of a typical ciliopathy as well as inclusion of TTC21B on gene panels for early-onset arterial hypertension might shorten the diagnostic odyssey for patients affected by this rare tubuloglomerular kidney disease.


Assuntos
Glomerulosclerose Segmentar e Focal , Hipertensão , Nefropatias , Feminino , Fibrose , Glomerulosclerose Segmentar e Focal/complicações , Glomerulosclerose Segmentar e Focal/genética , Glomerulosclerose Segmentar e Focal/patologia , Humanos , Hipertensão/genética , Rim/patologia , Nefropatias/genética , Masculino , Proteinúria/complicações , Proteinúria/genética , Proteinúria/patologia
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