Hypertension and nephrology

[The ESH Congress 2018 A Brief Presentation of Some Current Topics Related to Renal Failure from the 2018 ESH Congress]

DOLGOS Szilveszter

MAY 10, 2019

Hypertension and nephrology - 2019;23(02)

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Hypertension and nephrology

[Hungarian dialysis statistics: changing trends in the renal epidemiology]

KULCSÁR Imre, KISS István, SZEGEDI János

[In the last 30-35 years, dialysis care in Hungary has been a major development: both the incidence and prevalence of patients have increased year by year. Over the last decade, growth has slowed and is becoming more and more stabilized (similar trends can be seen in dialysis statistics in developed countries). Behind the dialysis indication the acute kidney injury (AKI) is more common than the end-stage renal disease (ESRD). The latter incidence has been stable for last 6 years (200-230 patient/million population). The annual average growth rate of prevalent dialysis patients was only 0.9%/year in the last 6 years. Among prevalent dialysis patients, the proportion of diabetic patients has remained unchanged for 10 years (26-27%), but those have increased who had hypertension nephropahty. The average age of incident and prevalent dialyzed patients has decreased gradually over the past 8 years (between 2009 and 2017 incident rate was from 67.1 to 63.0 years, prevalent rate was from 65.6 to 61.8 years). Unfortunately, just over half of the patients who dialyzed due to chronic kidney disease (CKD) have reached dialysis day 91. This is due to the high proportion of patient who was in urgent need of dialysis. In chronic hemodialysis (HD) program, the proportion of patients treated with arterovenous fistulas (AVF) decreases, while the rate of central venous catheter (CVC) users increases. The Hungarian peritoneal dialysis program in Europe is very good. The number of prevalent patients receiving renal replaement therapy (RRT) in Hungary in 2017 was 1005 for 1 million inhabitants.]

Hypertension and nephrology

[Letter to our Readers]

ALFÖLDI Sándor, KÉKES Ede

Hypertension and nephrology

[May is the Month of Blood Pressure Measurement]

JÁRAI Zoltán

Hypertension and nephrology

[Diabetology in dialysis]

MÁCSAI Emília, HALMAI Richárd, NEMERE Éva, BRASNYÓ Pál, KISS István

[According to epidemiological data, the number of diabetic patients requiring dialysis is increasing. Burnt-out diabetes, new onset diabetes during chronic dialysis treatment and new onset diabetes after transplantation diabetes are new types of diabetes compared to the traditional division forms. It is utmost important to evaluate education ability and acceptance the core values of lifestyle changes. Clear guidelines for oral anti-diabetic and insulin therapy have not yet been developed since this group of patients did not participate in previous major surveys. In order to formulate individualized therapeutic recommendations, it is imperative to perform regular glucose self-monitoring, which is also the cornerstone of solving unexpected situations. Both in hemodialysis and peritoneal dialysis, special considerations should be applied to the diabetic patient group, this review focuses on the current understanding of available relevant knowledge and summarizes presumably extrarenal diabetic complications as well.]

Hypertension and nephrology

[Serum uric acid level in hypertension. Domestic experience based on the data of the Hungarian Hypertonia Register 2011., 2013., 2015. Part I. Introduction. Patients and methods. Basic data]

KÉKES Ede, PAKSY András, ALFÖLDI Sándor

[Worldwide, screening in the general population detects an increase in serum uric acid levels in both sexes. This growth trend is also valid for hypertension. Authors studied the incidence of serum uric acid levels and its correlation with age, risk factors, anthropological, metabolic characteristics, blood pressure, blood pressure target, organ damage, age-related co-morbidity and drug therapy in 47,372 hypertensive patients (22,688 males, 24,684 women). In the first part of their analysis they present the method of analysis and the basic correlations. The uric acid level is higher in men than in women, with the advancement of age increasing. Increases in systolic and diastolic blood pressure are associated with increases in serum uric acid levels, with a tendency for systolic pressure to be significantly higher. For ladies, the rising trend is smaller and always lower in uric acid values. The uric acid value is higher in patients with the non-target blood pressure. The presence of co-morbidity significantly increases serum uric acid levels.]

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Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

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Myasthenia gravis (MG) is an autoimmune disorder of neuromuscular transmission. Autonomic dysfunction is not a commonly known association with MG. We conducted this study to evaluate autonomic functions in MG & subgroups and to investigate the effects of acetylcholinesterase inhibitors. This study comprised 30 autoimmune MG patients and 30 healthy volunteers. Autonomic tests including sympathetic skin response (SSR) and R-R interval variation analysis (RRIV) was carried out. The tests were performed two times for patients who were under acetylcholinesterase inhibitors during the current assessment. The RRIV rise during hyperventilation was better (p=0.006) and Valsalva ratio (p=0.039) was lower in control group. The SSR amplitudes were lower thereafter drug intake (p=0.030). As much as time went by after drug administration prolonged SSR latencies were obtained (p=0.043).Valsalva ratio was lower in the AchR antibody negative group (p=0.033). The findings showed that both ocular/generalized MG patients have a subclinical parasympathetic abnormality prominent in the AchR antibody negative group and pyridostigmine has a peripheral sympathetic cholinergic noncumulative effect.

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[What happens to vertiginous population after emission from the Emergency Department?]

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[Background – Dizziness is one of the most frequent complaints when a patient is searching for medical care and resolution. This can be a problematic presentation in the emergency department, both from a diagnostic and a management standpoint. Purpose – The aim of our study is to clarify what happens to patients after leaving the emergency department. Methods – 879 patients were examined at the Semmel­weis University Emergency Department with vertigo and dizziness. We sent a questionnaire to these patients and we had 308 completed papers back (110 male, 198 female patients, mean age 61.8 ± 12.31 SD), which we further analyzed. Results – Based on the emergency department diagnosis we had the following results: central vestibular lesion (n = 71), dizziness or giddiness (n = 64) and BPPV (n = 51) were among the most frequent diagnosis. Clarification of the final post-examination diagnosis took several days (28.8%), and weeks (24.2%). It was also noticed that 24.02% of this population never received a proper diagnosis. Among the population only 80 patients (25.8%) got proper diagnosis of their complaints, which was supported by qualitative statistical analysis (Cohen Kappa test) result (κ = 0.560). Discussion – The correlation between our emergency department diagnosis and final diagnosis given to patients is low, a phenomenon that is also observable in other countries. Therefore, patient follow-up is an important issue, including the importance of neurotology and possibly neurological examination. Conclusion – Emergency diagnosis of vertigo is a great challenge, but despite of difficulties the targeted and quick case history and exact examination can evaluate the central or peripheral cause of the balance disorder. Therefore, to prevent declination of the quality of life the importance of further investigation is high.]

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Atypical presentation of late-onset Sandhoff disease: a case report

SALAMON András , SZPISJAK László , ZÁDORI Dénes, LÉNÁRT István, MARÓTI Zoltán, KALMÁR Tibor , BRIERLEY M. H. Charlotte, DEEGAN B. Patrick , KLIVÉNYI Péter

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.