Hypertension and nephrology

[Symptomes and genetics of nephronophthisis]

TORY Kálmán, VÁRKONYI Ildikó, BERNÁTH Mária, RÉMI Salomon, SOPHIE Saunier, MARIE-CLAIRE Gubler, CORINNE Antignac, TULASSAY Tivadar, REUSZ György

FEBRUARY 20, 2010

Hypertension and nephrology - 2010;14(01)

[Nephronophthisis is an autosomal recessive, chronic tubulointerstitial nephropathy, responsible for 6-10% of childhood chronic renal failure cases. Its first symptoms, polyuria-polydipsia, anaemia and failure to thrive precede the development of end-stage renal disease by years. Increased echogenicity with loss of corticomedullary differentiation are the key findings on ultrasound, the lack of cysts does not rule out the diagnosis. Histologically, it is characterized by interstitial fibrosis and irregularities of the tubular basal membrane. Genetically, it is highly heterogeneous. Ten nephronophthisis genes have already been identified in 60% of the patients. The encoded proteins - similarly to other proteins mutated in cystic kidney diseases - are localized to primary cilium-basal body-centrosomal complex.]

COMMENTS

0 comments

Further articles in this publication

Hypertension and nephrology

[Letter to the Reader A Letter to Society Members]

KISS István, TÚRI Sándor,

Hypertension and nephrology

[Enjoyable and invisible risk: salt The role of the Hungarian Hypertension Society in the National Salt Intake Lowering Program: STOP-SÓ]

KISS István

[Cardiovascular disease accounts for more than 50% of Hungarian mortality and hypertension accounts for almost 50% of coronary heart disease and for more than 60% of stroke. High salt intake increases blood pressure and major and sustained consumption may cause high blood pressure. In Hungary more than 2.5 million people have hypertension and among them only 44% have their blood pressure under 140/90 mm Hg. Achieving target blood pressure is difficult as salt intake of the Hungarian population is higher than that recommended in every age group. Blood pressure control consists of proper combination of medical treatment and of nonmedical procedures. Among non-medical procedures weight loss, increase of physical activity, Mediterranean diet and decrease of salt intake are of value in blood pressure lowering. A daily salt intake of less than 6 grams is recommended in the Hungarian guideline and in the European one the recommendation is more rigorous. However in Hungary average salt intake is 18 grams among men and 14 grams among women. Responsibility of the individual person is inevitable in preserving health and preventing disease. A perfect example for this is the change of salt intake habits as it is demonstrated that decreasing salt intake results in the decrease of blood pressure. A daily decrease of 5 grams in salt intake results in 23% less stroke and 17% less cardiovascular disease. The Hungarian Society of Hypertension has joined among the first to the Hungarian Salt Intake Decreasing Programme and thus its activity is aimed at strengthening the public health subset of the Hungarian Cardiovascular Programme.]

Hypertension and nephrology

[Hypertension and sexuality]

BARNA István

[Atherosclerosis is a phenomenon of natural aging and as part of it erectile dysfunction (ED) occurs. ED is further aggraveted by smoking, diabetes, atherogen dyslipidemia, obesity, systolic hypertension and vascular disesases (carotid, coronary and peripheral). The average incidence of ED is 19.2% but depending on age (between 30 and 80 years) the relative frequency is fairly different (from 2.3% to 53.5%). Appearence of ED might be the first warning sign of cardiovascular disease. The basis of the treatment of hypertensive males suffering from ED might be the cessation of smoking and quitting alcohol consumption. Optimalization of body weight includes low dietary fat and carbohydrate consumption. Concerning the antihypertensive treatment of males suffering from ED centrally acting agents, diuretics (except indapamide) and beta blockers (except carvedilol and nebivolol) should be omitted. Because of the neutral effect of calcium channel blockers and ACE inhibitors they can be safely administered. There is increasing evidence about ARBs that they have beneficial effect on erectile function and libido, too. If, testosterone production decreases hormone substitution - controlled by an urologist - can be recommended. Oral phosphodiesterase inhibitors (PDE5) can be safely administered even in hypertension. The incidence of sexual dysfunction (SD) among women between ages 40 and 80 is 47%. The most frequent cause in the background of decreased sexual desire among women are psychological, emotional and hormonal reasons or side effect of medication. Several studies proved the association of hypertension, high plasma cholesterol levels, smoking, vascular diseases and sexual dysfunction among women. Disturbance of local blood supply (clitoral, vaginal) is an early prognostic sign, too, like in males. Estrogen hormon replacement might alleviate these symptoms. In recent years sildenafil proved to be effective in several studies and ARBs improve libido, as well.]

Hypertension and nephrology

[New data about adolescent hypertension]

PÁLL Dénes, JUHÁSZ Mária, LENGYEL Szabolcs, FÜLESDI Béla, PARAGH György, KATONA Éva

[The new recommendation of management of high blood pressure in children and adolescents was published at Journal of Hypertension, September 2009. The aim of this review is - based on this guideline - to summarize the newest knowledge of epidemiology, pathomechanism, diagnosis and treatment of adolescent hypertension.]

Hypertension and nephrology

[Pathophysiology, measurement methods and prognostic role of arterial stiffness]

TIMÁR Orsolya, SOLTÉSZ Pál

[In the past decade, a novel property of circulation, arterial stiffness (or decreased arterial distensibility) began to recieve special attention. Three years ago, Hypertonia and Nephrologia has already reviewed the gathered information on the clinical significance of arterial stiffness, described two commonly used stiffness parameters, pulse wave velocity (PWV) and augmentation index (AIx), and assessed the relationship of arterial stiffness and the traditional risk factors. Recently, more and more clinical epidemiological studies provided evidence that the parameters quantifying arterial stiffness are more than innocent side effects of cardiovascular changes, as they can be linked to target organ damage and increased mortality. In the present study, we review the pathomechanism and current methods of measurement of decreased arterial compliance, we summarize the results of recently closed epidemiologic studies and finally, we will briefly discuss possible measures of arterial stiffness treatment.]

All articles in the issue

Related contents

Clinical Neuroscience

[The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon’s disease patients]

BALICZA Péter, BEREZNAI Benjámin, TAKÁTS Annamária, KLIVÉNYI Péter, DIBÓ György, HIDASI Eszter, BALOGH István, MOLNÁR Mária Judit

[Parkinson’s disease is a promising target of applying personalized medicine. For this purpose it is crucial to reveal the genetic and environmental factors, which contribute to the disease, also to collect epidemiologic data and to preserve the patients samples and data in a proper biobank. In our investigation we examined the prevalence of the most frequent Parkinson’s disease causing LRRK2 G2019S mutation in a Hungarian Parkinson-patient group. From 120 patients, we haven’t detected this substitution in anyone. Our investigation suggest that the mutation LRRK2 G2019S may be a rare cause of Parkinson disease in the Hungarian population.]

Hypertension and nephrology

[Treatment of hypertension in patients with chronic renal failure]

SZLOVÁK Edina, SZILVESZTER Dolgos

[The prevalence of chronic renal failure and hypertension is steadily increasing worldwide. The risk of possible cardiovascular death in patient with advanced renal failure is greater than the risk of progression to end-stage renal failure. Therefore treating and achieving target blood pressure is important in order to slow renal function decline in parallel with cardiovascular risk reduction. However, guidelines do not specify a single blood pressure target to be achieved in patients with renal failure, but suggest evidence based, reno- and cardioprotective therapy. This paper summarizes the clinical practice of treating hypertension (drug and nondrug treatment, therapeutic algorithm, target value, effectiveness of therapy) in patients with chronic renal failure.]

Clinical Neuroscience

[Genetics and present therapy options in Parkinson’s disease: a review]

BEREZNAI Benjámin, MOLNÁR Mária Judit

[In the past years, six monogenic forms of Parkinson disease have clearly been associated with this movement disorder. The most frequent forms are LRRK2- and Parkin-associated Parkinson disease. Currently, a genetic diagnosis does not change the therapy, the genes involved in genetic Parkinson disease help to understand the underlying pathophysiologic mechanisms of Parkinson disease. Beside the overview of the molecular-genetic basis, we give a review about genetic testing, pharmacological and other multidisciplinary treatment options.]

Hypertension and nephrology

[Nutritional status of hemodialysis patients, and the role of dietician in the complex care of renal patients]

POLNER Kálmán, KOVÁCS Lívia, HARIS Ágnes

[In chronic renal failure severe cardiovascular complications develop, which are the cause of death in 50% of the patients. According to recent results, behind the accelerated atherosclerosis, malnutrition and inflammation, developing in patients with chronic renal failure, play significant role. Malnutrition and inflammation show close relationship to the serum albumin level, which is an independent predictor of mortality. Authors studied the nutritional parameters of 94 chronically hemodialysis patients. Patients had been dialysed for more than three months, for 3×4-4.5 hours weekly. Among them 36% had diabetes. According to BMI (body mass index) 42.5% of the patients was normally nourished (20-24 kg/m2), 11.7% of them had malnutrition, 28.7% was overweight, and 17.1% was mildly or moderately obese. Subjective Global Assessment (SGA), calculated by dietician, revealed, that 47.9% of the patients has normal nutritional condition, all the others had some degree of malnutrition. Serum albumin level showed close correlation with the nutritional status, also with an inflammatory marker, the CRP. Only 63.8% of the patients had higher than 40g/l serum albumin. Those, who had higher than 10 mg/l CRP value, had significantly lower serum albumin (38.7±3.4 g/l), comparing to the albumin of the patients, whose CRP was below 10 mg/l (40.5±3.9 g/l, p=0.04). Comparing anthropometrical data, there was no significant difference between diabetic and non-diabetic patients. Grouping patients by their ages, the malnutrition, defined by SGA scores and by serum albumin level, was significantly worse in patients older than 80 years, than in the younger than 50 years old subjects, which signals increased risk of mortality of the elderly patients. A case presentation demonstrates, that malnutrition can be diagnosed at early stage by appropriate nutritional assessment, and it can be corrected by timely and satisfactory energy- and nutrient-substitution, in severe cases by specially prepared nutritional supplements, and thereby the patient’s severe cardiovascular risk can be ameliorated. The successful treatment of hemodialysis patients requires change in medical practice, and close cooperation between physicians and dieticians.]

Clinical Neuroscience

[Genetic background of epilepsies]

KELEMEN Anna, SZŰCS Anna, RÁSONYI György, JANSZKY József, HOLLÓ András, HALÁSZ Péter

[In this article we review epilepsies with monogenic inheritance. Most of these diseases are caused by abnormal function of ligand- and voltage gated ion channels caused by a genetic defect, therefore belonging to the channelopathies. From the inherited epilepsies the genetics of the autosomal dominant partial epilepsies is clarified the best. Mutations of the nicotinic acetylcholine receptor subunits are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage gated potassium channels (KCNQ2 and KCNQ3) have been identified in benign familial neonatal convulsions. Familial temporolateral epilepsy was associated with mutations of a tumor suppressor gene. From the generalized epilepsies, the syndrome of generalized epilepsy with febrile seizures plus (GEFS+) can be caused by mutations of the sodium channel subunits and of the GABAA receptor subunits. These important results would probably lead to new findings in the genetics of the more common forms of idiopathic generalized epilepsies, which have presumed polygenic origin. Although without definite conclusions, sodium channel and GABA receptor dysfunction is presumed. The accumulated knowledge about channelopathies enables insight to the cellular mechanism of epileptogenesis as well.]