Keyword: Hypertension

ABSTRACT: Background: WNK1 encodes a serine/threonine kinase involved in renal electrolyte transport, blood-pressure regulation, and peripheral nervous system function. Pathogenic variants are associated with pseudohypoaldosteronism type II (PHAII; Gordon syndrome) and hereditary sensory and autonomic neuropathy type IIA. We report an unusual phenotype involving severe familial hypertension, mild autonomic manifestations, and recurrent seizure-like episodes.
Case presentation: A 39-year-old man presented with severe arterial hypertension and seizure-like episodes occurring daily, sometimes twice per day. Episodes began with hand tremor, progressing to generalized muscle rigidity, transient loss of consciousness, and facial and hand swelling. Observed sustained rigidity predominantly affected the upper body and thighs, with relative sparing of the gastrocnemius muscles. Psychological stress and blood-pressure elevations were common triggers. Blood pressure was 160/100 mmHg approximately five minutes before one attack; symptoms were less pronounced at systolic pressures of 130–140 mmHg. His mother and maternal grandfather had severe hypertension, whereas siblings were unaffected.
Brain 3-T MRI showed no explanatory structural abnormalities. Twenty-four-hour video-EEG monitoring demonstrated no convincing epileptiform activity, prompting consideration of a non-epileptic mechanism. Whole-genome sequencing identified a heterozygous WNK1 frameshift variant, NM_018979.4.1748dup (p.Gln584AlafsTer27), classified as pathogenic by AIRS and Franklin, with sequencing evidence supported by manual IGV review.
Biochemical findings were atypical for classical PHAII. Potassium (4.0 mmol/L), sodium (143 mmol/L), magnesium (0.78 mmol/L), total calcium (2.16 mmol/L), phosphate (0.89 mmol/L), and creatinine (70.25 μmol/L) were within reference intervals. Venous pH (7.39) and bicarbonate (23.7 mmol/L) were normal. Mild hyperchloremia (109 mmol/L), decreased ionized calcium (1.05 mmol/L), and vitamin D deficiency (12.11 ng/mL) were present, with normal PTH (28.07 pg/mL) and aldosterone (131.06 pg/mL). Twenty-four-hour urinary sodium excretion was elevated (232 mmol/day). Treatment comprised hydrochlorothiazide 12.5 mg once daily, calcium citrate 1,000 mg, and magnesium citrate 400 mg. At the two-month follow-up, the patient reported only one stress-triggered episode during the preceding month, compared with daily episodes before treatment.
Conclusion: This presentation raises the possibility of an atypical WNK1-associated phenotype, although the variant’s contribution requires further clarification. The absence of hyperkalemia and metabolic acidosis differs from classical Gordon syndrome, while ionized hypocalcemia may contribute to neuromuscular hyperexcitability. The reported reduction in episode frequency suggests clinical improvement following treatment. Long-term follow-up, including blood-pressure and electrolyte monitoring and further characterization of paroxysmal events, is required to evaluate sustained response and clarify the underlying mechanism.

ABSTRACT: Background: Pregnancy in women with kidney disease is associated with an increased risk of maternal and obstetric complications, including preeclampsia, preterm delivery, and deterioration of kidney function. The magnitude of risk increases with advancing chronic kidney disease (CKD) stage and is further influenced by hypertension and proteinuria. However, evidence describing the spectrum of kidney disease and predictors of adverse pregnancy outcomes in Central Asian populations remains limited. This study aimed to characterize the clinical and laboratory features of pregnant women with kidney disease and identify factors associated with adverse pregnancy outcomes.
Methods: We conducted a retrospective single-center cohort study including 80 hospitalizations of 79 pregnant women with kidney disease between 2022 and 2026. Demographic characteristics, kidney disease categories, comorbidities, laboratory parameters, and available pregnancy outcomes were analyzed. A combined adverse outcome was defined as at least one of the following: CKD progression, dialysis initiation, preeclampsia, eclampsia, HELLP syndrome, pregnancy termination for medical indications. Bias-reduced logistic regression was used to identify factors associated with adverse outcomes.
Results: Urinary tract infections accounted for 49.4% of kidney-related diagnoses and glomerular diseases for 35.4%. Hypertension was present in 28.8% and anemia in 61.8% of cases. Women with glomerular diseases had significantly higher 24-hour proteinuria than women with other kidney disorders (1.3 [0.6–3.3] vs 0.1 [0.0–0.5] g/day; p<0.001). A combined adverse outcome occurred in 10/80 (12.5%) hospitalizations. The incidence was markedly higher in women with CKD stage ≥3 than in those with CKD stage <3 or without CKD (83.3% vs 7.2%; p<0.001). In univariable analysis, CKD stage ≥3 (OR 43.00; 95% CI 5.07–364.80), hypertension (OR 24.68; 95% CI 3.93–154.88), higher admission creatinine (OR 2.70 per 1 SD; 95% CI 1.43–5.09), and higher 24-hour proteinuria (OR 2.20 per 1 SD; 95% CI 1.17–4.16) were associated with adverse outcomes. In the multivariable model, CKD stage ≥3 (OR 20.29; 95% CI 1.58–260.05) and hypertension (OR 18.62; 95% CI 2.61–132.74) remained independently associated with adverse outcomes.
Conclusion: Advanced CKD and hypertension were the strongest predictors of adverse pregnancy outcomes. Assessment of kidney function, blood pressure, and quantitative proteinuria may facilitate early risk stratification and identify women requiring intensive multidisciplinary nephrology and obstetric surveillance.
 

ABSTRACT: Background: Diabetic chronic kidney disease (DKD) is a leading cause of kidney failure and cardiovascular morbidity worldwide. Although albuminuria and estimated glomerular filtration rate (eGFR) remain central markers of risk stratification, early progression is frequently driven by a broader cluster of metabolic, hemodynamic, inflammatory, and cardiometabolic factors. Identification of simple clinical predictors may support earlier intensification of nephroprotective therapy. This study aimed to evaluate clinical, biochemical, and renal predictors associated with early DKD progression.
Methods: This prospective observational study included 112 patients with type 2 diabetes mellitus and established chronic kidney disease. Baseline assessment included age, sex, diabetes duration, body mass index, systolic and diastolic blood pressure, glycated hemoglobin (HbA1c), fasting plasma glucose, lipid profile, serum creatinine, eGFR, urinary albumin-to-creatinine ratio (UACR), hemoglobin, uric acid, C-reactive protein, smoking status, hypertension, obesity, dyslipidemia, and cardiovascular disease history. Early CKD progression was defined as clinically significant eGFR decline during follow-up. Patients were divided into early progression and stable/slow progression groups. Between-group comparisons and multivariable logistic regression were performed.
Results: Early DKD progression was observed in 34 of 112 patients (30.4%), while 78 patients (69.6%) had stable or slowly progressive disease. Patients with early progression had longer diabetes duration (12.8±4.1 vs 8.9±3.6 years; p<0.05), higher systolic blood pressure (148±16 vs 134±14 mmHg; p<0.05), higher HbA1c (8.7±1.1 vs 7.6±0.9%; p<0.01), greater UACR (286 [164–420] vs 118 [62–210] mg/g; p<0.01), and lower baseline eGFR (52.4±13.8 vs 64.7±15.2 mL/min/1.73 m²; p<0.05). Progressors also had higher body mass index (31.2±4.6 vs 28.7±4.2 kg/m²; p=0.006), triglycerides (2.3±0.7 vs 1.8±0.6 mmol/L; p<0.01 ), uric acid (421±76 vs 368±69 µmol/L; p=0.05), and C-reactive protein (5.8 [3.4–8.6] vs 3.1 [1.8–5.2] mg/L; p=0.002), with lower hemoglobin (118±14 vs 126±13 g/L; p=0.004). In multivariable analysis, independent predictors of early progression were UACR above 300 mg/g (odds ratio [OR] 3.42, 95% confidence interval [CI] 1.48-7.91; p=0.004), HbA1c at least 8.0% (OR 2.76, 95% CI 1.27-6.01; p=0.011), uncontrolled hypertension (OR 2.58, 95% CI 1.17-5.68; p=0.018), and hyperuricemia (OR 2.21, 95% CI 1.02-4.79; p=0.044).
Conclusion: Early DKD progression affected nearly one-third of patients. Albuminuria, poor glycemic control, uncontrolled hypertension, hyperuricemia, reduced baseline eGFR, obesity, dyslipidemia, inflammation, and anemia were associated with accelerated renal decline. These clinically accessible variables may improve early risk stratification and guide individualized nephroprotective management.

ABSTRACT: Background: Chronic kidney disease (CKD) is an increasing global health concern and a major contributor to cardiovascular morbidity and mortality. Although its global prevalence is estimated at about 13%, data from Central Asia are limited.
Objective: To assess the prevalence, structure, and key determinants of CKD among adults in the Kyrgyz Republic.
Methods: A population-based cross-sectional study was conducted among adults aged ≥18 years across different regions. CKD was defined according to Kidney Disease: Improving Global Outcomes (KDIGO) criteria as an estimated glomerular filtration rate (eGFR) <60 mL/min/1.73 m² and/or a urinary albumin-to-creatinine ratio (UACR) ≥30 mg/g. Disease severity was staged by eGFR and albuminuria categories. Logistic regression identified independent predictors of CKD.
Results: The overall CKD prevalence was 10.8%, comparable to global estimates. Prevalence increased with age, reaching 25.0% among participants ≥70 years, of whom 64.3% had reduced kidney function. CKD was more common in women than in men (p<0.001). Major etiologic factors included diabetes mellitus (29%), chronic glomerulonephritis (23%), chronic pyelonephritis (17%), and hypertension (10%). In multivariable analysis, diabetes, hypertension, dyslipidemia, obesity (BMI ≥30), and rural residence were independent predictors of CKD (p<0.05).
Conclusion: CKD is highly prevalent among adults in the Kyrgyz Republic. Risk factors align with international data, but regional patterns show higher rates of chronic glomerulonephritis and pyelonephritis. Strengthening early detection, integrating CKD screening into national health programs, and focusing on high-risk groups—older adults, women, and rural populations—are crucial to reducing the CKD burden in Kyrgyzstan.

ABSTRACT: Background: Despite the fact that the prevalence of CKD and its effects on health have been studied mainly in economically developed countries, the burden of this disease is even greater in developing countries. It has been established that more than 50% of deaths in patients with ESRD are due to cardiovascular causes. The objective of our study is to comparatively study the structure of cardiovascular diseases in dialysis patients at different levels of health care in Uzbekistan.
Methods: 165 dialysis patients (90 men and 75 women) were studied. The main initial diseases were chronic glomerulonephritis (n=76), diabetes mellitus (n=44), urolithiasis (n=14), chronic pyelonephritis (n=10), etc. Patients were included from 3 clinics of different administrative levels - republican (n=32), urban (n=72) and rural (n=61).
Results: CVDs were identified in 69% of the urban, 44% of the regional and 47% of the republican population. In the structure of CVD, AH, IHD and CHF prevailed in all groups. Also, in the groups of the republican and city level, CVD was more common in a combined form, while dialysis patients at the regional level had more isolated CVD pathology.
Conclusion: Patients of the urban population on dialysis more often suffer from CVD than patients receiving HD at the republican and regional levels of health care. The combined lesion of the CVS occupies a leading place in the structure of CVD in dialysis patients at both urban and national levels.