Epicardial Adipose Tissue Thickness and Carotid Intima-Media Thickness in Hemodialysis Patients.

BACKGROUND: It is well-known that cardiovascular risk and all-cause mortality is increased in hemodialysis patients. Epicardial fat thickness (EFT), which reflects visceral adiposity, has been suggested as a new cardiometabolic risk factor. The purpose of this study was to investigate EFT in hemodialysis patients. METHODS: A total of 144 consecutive patients (60 hemodialysis patients and 84 controls) were enrolled into the study, and patients with diabetes mellitus and cardiovascular diseases (CVD) were excluded. EFT was measured on the free wall of the right ventricle at end-diastole from the parasternal long-axis view by standard transthorasic 2D echocardiography. RESULTS: The groups were similar in terms of sex distribution, age, blood pressure, heart rate and frequencies of CAD risk factors including smoking status, family history of CAD and hypertension. There were no significant differences between the hemodialysis patients and controls in 2D echocardiographic parameters, including ejection fraction and biochemical parameters except low-density lipoprotein, high-density lipoprotein and c- reactive protein. Despite having lower body mass index, EFT levels were significantly higher in hemodialysis patients compared to the controls (8.0 ± 2.2 mm vs. 5.8 ± 1.9 mm; p < 0.01). In multivariate linear regression analysis we determined that hemodialysis patient status was found to be an independent predictor for both EFT (ß = 0. 700, p = 0.014) and carotid intima-media thickness (CIMT, ß = 0. 614, p = 0.047). CONCLUSIONS: Hemodialysis patients are independently associated with high EFT and CIMT.

Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. We report a novel AVPR2 mutation in a Turkish 18 month-old boy with skeletal anomalies.

Electronic microarray screening of podocin mutations: a single-center study.

BACKGROUND: Because of resistance to immunosuppressants in nephrotic syndrome and reduction of proteinuria relapses following renal transplantation, it seems that new horizons have arisen from mutational screening of the podocin gene. The aim of this study was to assess electronic microarray screening of the podocin mutation. METHODS: Twelve previously identified podocin mutations were screened by the electronic microarray method in known DNA samples and in patients (aged 5 months-18 years, n = 38) with steroid-resistant primary nephrotic syndrome, isolated proteinuria, end-stage renal disease secondary to idiopathic nephrotic syndrome, and proteinuria relapses following renal transplantation. RESULTS: DNA samples previously supplied to define the mutation profile for analysis and which were used as controls were completely and correctly detected by this method. None of the 12 mutations was detected in our patients. The duration of analysis for one mutation, including hybridization, was only 30 min for 38 cases. CONCLUSION: Electronic microarray screening for NPHS2 mutations is not only rapid but also accurate. Previous identification of the mutation profile most often encountered in the investigated population is needed, however.

A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis. / Una nueva mutación de la enfermedad de Dent en un niño de 11 años con nefrolitiasis y nefrocalcinosis.

Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene.

La enfermedad de Dent es una tubulopatía recesiva ligada al cromosoma X caracterizada por proteinuria de bajo peso molecular (bpm), hipercalciuria, nefrocalcinosis o nefrolitiasis, disfunción tubular proximal e insuficiencia renal en la adultez. Las mujeres son portadoras y, en general, padecen una forma leve de la enfermedad. La progresión hacia la insuficiencia renal en estadio terminal se da entre los 30 y los 50 años de edad en el 30-80% de los varones afectados. A falta de un tratamiento dirigido al defecto molecular, en la actualidad, los pacientes con enfermedad de Dent reciben tratamientos complementarios orientados a prevenir la nefrolitiasis y la nefrocalcinosis. El caso que presentamos es el de un niño de 11 años con nefrocalcinosis y nefrolitiasis, en quien se detectó una nueva mutación en el gen CLCN5.

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD. However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene. This observation, the variable expressivity, and poor genotype-phenotype correlation led us to test several hypotheses including modifying haplotypes, oligogenic inheritance, or locus heterogeneity in SIOD. Haplotypes associated with the two more common mutations, R820H and E848X, did not correlate with phenotype. Also, contrary to monoallelic SMARCAL1 coding mutations indicating oligogenic inheritance, we found that all these patients did not express RNA and/or protein from the other allele and thus have biallelic SMARCAL1 mutations. We hypothesize therefore that the variable expressivity among patients with biallelic SMARCAL1 mutations arises from environmental, genetic, or epigenetic modifiers. Among patients without detectable SMARCAL1 coding mutations, our analyses of cell lines from four of these patients showed that they expressed normal levels of SMARCAL1 mRNA and protein. This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD.

The effect of ABO-Rh blood group determinants on urinary tract infections.

BACKGROUND: Blood group antigens are a group of carbohydrate determinants found on erythrocytes, phagocytes, lymphocytes and certain epithelial tissues including urothelium. There are several publications that defines enhanced bacterial adhesions due to genetic markers such as blood group types. METHODS: The ABO-Rh blood group distribution of patients with UTI and Escherichia coli(+) urine culture were compared with ABO-Rh blood group distribution of our country. RESULTS: The distribution of blood groups was as follows; 36.6% A Rh+, 4.9% A Rh-, 12.2% B Rh+, 2.4% B Rh-, 31.7% O Rh+, 2.4% O Rh-, 4.9% AB Rh+, respectively; and none with AB Rh- blood group. There was a significant correlation between our study group and ABO-Rh phenotypes distribution of Turkish population. CONCLUSIONS: The concordance of UTI with blood group ARh+ may be due to the most seen of ARh+ phenotype in the investigated population. We suggest that before defining the relationships on genetical markers, it would be more reliable to correlate them with their local distributions in the population.

Minimal change nephropathy in a 7-year-old boy with Rosai-Dorfman disease.

Rosai-Dorfman (R-D) disease is a benign lympho-histiocytosis of the lymphoid system. Immune derangement due to cytokine over-expression (tumor necrosis factor (TNF), interleukin (IL)-1b and IL-6) has been considered the cause of R-D disease. We present a 7-year-old boy with R-D disease who developed minimal change nephropathy (MCN) during the progression of R-D disease. The patient was resistant to oral prednisolone; and the remission of both R-D disease and MCN was achieved with oral cyclophosphamide (2 mg/kg, 12 weeks). MCN, the most common cause of nephrotic syndrome in childhood, is generally accepted to emerge by way of cytokine derangement. Correlation between R-D disease activity and the development and remission of nephrotic syndrome in our case suggested that nephrotic syndrome had been induced through some R-D disease-related immune mechanisms.

Una nueva mutación de la enfermedad de Dent en un niño de 11 años con nefrolitiasis y nefrocalcinosis / A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis

La enfermedad de Dent es una tubulopatía recesiva ligada al cromosoma X caracterizada por proteinuria de bajo peso molecular (bpm), hipercalciuria, nefrocalcinosis o nefrolitiasis, disfunción tubular proximal e insuficiencia renal en la adultez. Las mujeres son portadoras y, en general, padecen una forma leve de la enfermedad. La progresión hacia la insuficiencia renal en estadio terminal se da entre los 30 y los 50 años de edad en el 30-80% de los varones afectados. A falta de un tratamiento dirigido al defecto molecular, en la actualidad, los pacientes con enfermedad de Dent reciben tratamientos complementarios orientados a prevenir la nefrolitiasis y la nefrocalcinosis. El caso que presentamos es el de un niño de 11 años con nefrocalcinosis y nefrolitiasis, en quien se detectó una nueva mutación en el gen CLCN5.

Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene.

Procalcitonin and minimal-change nephropathy: a pilot study.

INTRODUCTION: This study assessed the role of procalcitonin (PCT) in the differentiation of minimal-change nephropathy (MCN) relapses from infections co-existent with proteinuria flares in children. METHODS: Data on the PCT levels of patients with MCN who were on follow-up were retrospectively gathered at relapse (Group I), during proteinuria attacks co-existent with intercurrent infection (Group II) and at remission (Group III). The results of these three groups were then prospectively compared with nephrologically healthy patients who had infections that were similar to those in Group II (Group IV), and controls (Group V). RESULTS: Significant differences in PCT level were noted between patients of Groups I, II and IV and the other two groups. A 93% reduction in proteinuria was achieved for Group II patients following an antibiotic regimen. The difference in PCT level between Groups I and II was significant. PCT showed a higher diagnostic predictability than C-reactive protein (CRP) in Group I patients, and was as good as CRP for those with infection and infection-related proteinuria. Sensitivity × specificity in relapse and infection-related states for PCT were 0.472 and 0.628, respectively, and those for CRP were 0.183 and 0.762, respectively. CONCLUSION: A combined approach with CRP and PCT readings may be beneficial in discriminating proteinuria attacks co-existent with intercurrent infection from sole relapses of nephrotic syndrome. PCT may be a part of the wide spectrum of immune abnormalities seen in patients with MCN.

A different interaction between parathyroid hormone, calcitriol and serum aluminum in chronic kidney disease; a pilot study.

BACKGROUND/AIMS: Aluminum (Al) is an ingredient of a variety of foodstuffs and medications as well as of domestic water supplies. The patients with chronic kidney disease (CKD) are more susceptible to bone toxicity of Al. The aim of the study was to investigate the interactions between serum Al, parathyroid hormone (PTH) and active vitamin-D in CKD. METHODS: A total of 10 pediatric patients with CKD and 20 healthy controls were enrolled in study. The blood calcium, aluminum, PTH, alkaline phosphatase and phosphorus were evaluated at onset and following a regimen of oral 1,25 dihydroxycholecalciferol (1,25 DHC) for 4 weeks. RESULTS: Although median values of PTH, calcium, phosphorus and alkaline phosphatase did not differ (P > 0.05) after calcitriol administration, the aluminum levels (median: 27.2 ng/ml, range: 11.3-175) declined significantly (median: 3.8 ng/ml, range: 0.64-11.9) after a regimen of oral 1,25 DHC for 4 weeks in all participants (P < 0.05). The median levels of aluminum after 1,25 DHC did not show statistically significant difference with median aluminum levels of healthy controls (median: 2.5 ng/ml, range: 0.2-33.2) (P < 0.05). CONCLUSION: Calcitriol may lead to decline in serum Al levels in CKD patients.