Hypertension and nephrology

[Genetics of isolated steroid-resistant nephrotic syndrome - results of the two decades around the turn of the millennium]

TORY Kálmán, KERTI Andrea, REUSZ György

DECEMBER 20, 2011

Hypertension and nephrology - 2011;15(05)

[Childhood steroid-resistant nephrotic syndrome (SRNS) is a devastating clinical condition which progresses to end-stage renal disease in 30-40% of the cases after a follow up of 10 years. Based on its etiology, two forms can be distinguished, an immune and a genetic form. During the last two decades, mutations of ten genes - encoding mainly podocyte proteins - were identified in the latter group. As the treatment in the immune and genetic forms are different, and only the identification of the causative mutation can reliably distinguish them, it is important to be familiarized with the genotype-phenotype correlations. The aim of the present review is to summarize our current knowledge on the phenotypes linked to the identified genes.]

COMMENTS

0 comments

Further articles in this publication

Hypertension and nephrology

[Antihypertensive therapy in patients with COPD - the significance of nebivolol]

FARSANG Csaba

[The occurrence of hypertension associated with chronic obstructive pulmonary disease (COPD) is increasing. Recognising COPD is important in order to choose the appropriate antihypertensive drugs. Anti-hypertensive drugs that can be used to treat patients with hypertension and COPD include diuretics, ACE-inhibitors, angioten-sine receptor blockers (AT1 receptor antagonists) and calcium antagonists, as well as cardioselective beta blockers, as these drugs decrease total and cardiovascular mortality. Of these agents, the importance of the most cardioselective one, nebivolol should be stressed, as this drug has no clinically significant effect on parameters of respiratory function, and, through its additional effects (namely by increasing the synthesis of NO), it has a beneficial effect on COPD-related deterioration of respiratory functions, haemodynamic alterations (cor pulmonale) and local factors that participate in the respiratory inflammation and endothelial dysfunction.]

Hypertension and nephrology

[Association of body composition and mortality in patients on maintenance dialysis and on waitlist and after kidney transplantation]

UJSZÁSZI Ákos, KALANTAR-ZADEH Kamyar, MOLNÁR Miklós Zsolt

[Overweight [body mass index (BMI) = 25-30 kg/m2] and obesity (BMI ≥30 kg/m2) are epidemic in both developed and developing countries. Obesity has been recognized as risk factor for the development and progression of chronic kidney disease and is associated with increased cardiovascular risk and poor survival. Almost 2/3 of maintenance hemodialysis patients die within five years of commencing dialysis treatment. Although patients on the waitlist having less severe comorbidities than their non-listed counterparts, the death rate remains high while it can take years for an organ donation. In patients with end stage renal disease (ESRD) undergoing maintenance hemodialysis an “obesity paradox” has been consistently reported, i.e., a high BMI is incrementally associated with better survival. Overweight and obesity are highly prevalent in patients at the time of kidney transplantation. Indeed, most transplant centers in US may suspend wait-listing of obese patients with a BMI above 30 or 35 kg/m2 and refer them for weight reduction procedures such as bariatric surgery as a contingency for the transplant surgery. The effect of pre- and post-transplant obesity in kidney transplanted patients on long-term graft and patient survival has not been well established. We have reviewed and summarized salient recent data pertaining to body composition and clinical outcomes about the association of survival and body composition in transplant-waitlisted dialysis patients and kidney transplanted recipients. ]

Hypertension and nephrology

[Remembering Professor Péter Bálint on his 100th Birth Anniversary ]

BARTHA Jenő

Hypertension and nephrology

[Similarities and differences in the renal effects of statins]

ÁBRAHÁM György

[By efficiently reducing serum cholesterol level, statins significantly decrease both cardiovascular morbidity and mortality. Decreasing LDL-cholesterol level by 1% reduces coronary mortality risk by 1%, whereas increasing HDL-cholesterol level by 1% reduces the risk by 3%. At the same time, renal failure significantly increases cardiovascular events and/or mortality compared with the population mean. It is an exciting question whether statins are able to prevent and decelerate the deterioration of kidney function deterioration, preserve GFR and decrease albuminuria. Depending on the strength of their effect, statins have different cholesterollowering capacity (rosuvastatin and atorvastatin are especially effective). An important question is whether these differences can be detected in the renal function as well. The results of experimental data and major clinical trials (e.g. AURORA, PLANET I-II, SHARP) are often controversial. Nevertheless, statin therapy has advantages for patients with kidney diseases, although to a lesser extent than it has in the normal population.]

Hypertension and nephrology

[Association between complications of percutaneous kidney biopsy and histological diagnosis ]

FISI Viktória, MAZÁK István, DEGRELL Péter, HALMAI Richárd, MOLNÁR Gergő A., FEHÉR Eszter, NÉMETH Kinga, PINTÉR István, KOVÁCS Tibor, WITTMANN István

[Background: Percutaneous renal biopsy is an essential tool in diagnosis and prognosis of renal diseases. It is well-known that this method has potential complications. The connection between complication occurrence related to renal biopsies and histological diagnoses of the biopsy specimen was analyzed in the present study. We also analyzed the distribution of diagnoses in our population. Methods: In this retrospective survey, 353 patients undergoing renal biopsy was studied. Biopsies were performed after marking the site of puncture with ultrasound imaging. Influence of diagnoses and clinical parameters on complications was evaluated. Results: We found a complication rate of 44.5%. In patients with diabetic nephropathy (likelihood ratio (LR) 0.44) or acute tubular necrosis (LR 0.38) a significantly lower rate of complications was found, while patients with thin basement membrane syndrome had more than 6-fold higher risk for evolvement of intrarenal haemorrhage. Patients with acute interstitial nephritis (LR 3.18) or vasculitis (LR 2.88) have a more than 2-fold risk for arteriovenous shunts while in patients with severe arteriosclerosis the occurrence of this complication was lower (LR 0.46). In rapidly progressive glomerulonephritis, arteriovenous shunts evolved also in a significantly higher rate. Conclusion: Patients with vasculitis, rapidly progressive glomerulonephritis, thin basement membrane syndrome or acute interstitial nephritis should be monitored more carefully after renal biopsy due to the significantly higher risk for complications. ]

All articles in the issue

Related contents

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

[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.]

Lege Artis Medicinae

[THE INFLUENCE OF IMMUNOGENOMIC FACTORS ON HIV-INFECTION]

FÜST György

[Authors discuss data published in the last 2-3 years indicating that besides the characteristics of the virus itself, the natural course of HIV disease is also regulated by genetic factors from the very onset till the end. Susceptibility for HIV infection of the carriers of a non-expressing mutant allele (CCR5Δ32) of one of the main coreceptors of HIV is markedly lower than that of the non-carriers. HLA-concordancy, that is few differences in the HLA alleles between the infected and noninfected partners, increases the chance of the HIVtransmittal. On the other hand, carriage of some HLA genotype e.g. that of the HLA A2/6802 supertype may significantly decrease the risk of the sexually transmitted HIV infection or that of the HIV infection from the mother to child. The rate of progression of the HIV disease which may vary in broad range from the median value of 10 years is also dependent on genetic factors. Progression is lower than the average in the carriers of the CCR5Δ32, HLA-B*27 and HLAB* 57 alleles while it is significantly more rapid in carriers of the HLA-B*35.1 allele. Recent data on the regulation by genetic factors of some sideeffects and the efficacy of combined antiretroviral treatment indicate that in the near future individual treatment may be used on the basis of the genetic background of the patients.]

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.]

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.]

Clinical Neuroscience

[NONSENSE MUTATION 193C>T OF NEUROFIBROMATOSIS TYPE 2 - A NEUROSURGICAL CHALLENGE]

BOBEST Mátyás, TÓTH Csaba, GYURCSÓ Mária, MOLNÁR Mária Judit, GARZULY Ferenc

[A 15 years old male was operated because of incidentally found intercostal schwannoma. Two years later severe cerebellar ataxy and left sided anacusis developed. MRI revealed bilateral vestibularis tumors and multiple cervical intradural extramedullar myelon compressing lesions. After partial resection of the huge left sided cerebello-pontin tumor, histologically schwannoma, and the exstirpation of the multiple cervical meningiomas the patient died three months later due to septic complications. The 24 years old mother had been operated on similar lesions 12 years earlier, after two weeks postoperative period she died. Her 14 years old twins are living, a boy also with bilateral acustic tumours and a girl who is intact. Genetic investigation revealed C>T nonsense mutation at position 193 in the exon 2 of the NF2 gene. This mutation cause premature truncation of the gene protein and is probably in connection with the clinically severe phenotype. Early diagnosis of this type of neurofibromatosis is mandatory concerning the therapy.]