Pediatric kidney care experience after the 2023 Türkiye earthquake.

BACKGROUND: Two earthquakes on 6 February 2023 destroyed 10 cities in Türkiye. We report our experience with pediatric victims during these catastrophes, with a focus on crush syndrome related-acute kidney injury (Crush-AKI) and death. METHOD: Web-based software was prepared. Patient demographics, time under rubble (TUR), admission laboratory data, dialysis, and kidney and overall outcomes were recorded. RESULTS: A total of 903 injured children (median age 11.62 years) were evaluated. Mean TUR was 13 h (interquartile range 32.5, max 240 h). Thirty-one of 32 patients with a TUR of >120 h survived. The patient who was rescued after 10 days survived. Two-thirds of the patients were given 50 mEq/L sodium bicarbonate in 0.45% sodium chloride solution on admission day. Fifty-eight percent of patients were given intravenous fluid (IVF) at a volume of 2000-3000 mL/m2 body surface area (BSA), 40% at 3000-4000 mL/m2 BSA and only 2% at >4000 mL/m2 BSA. A total of 425 patients had surgeries, and 48 suffered from major bleeding. Amputations were recorded in 96 patients. Eighty-two and 66 patients required ventilator and inotropic support, respectively. Crush-AKI developed in 314 patients (36% of all patients). In all, 189 patients were dialyzed. Age >15 years, creatine phosphokinase (CK) ≥20 950 U/L, TUR ≥10 h and the first-day IVF volume <3000-4000 mL/m2 BSA were associated with Crush-AKI development. Twenty-two deaths were recorded, 20 of 22 occurring in patients with Crush-AKI and within the first 4 days of admission. All patients admitted after 7 days survived. CONCLUSIONS: These are the most extensive pediatric kidney disaster data obtained after an earthquake. Serum CK level was significantly associated with Crush-AKI at the levels of >20 950 U/L, but not with death. Adolescent age and initial IVF of less than 3000-4000 mL/m2 BSA were also associated with Crush-AKI. Given that mildly injured victims can survive longer periods in the disaster field, we suggest uninterrupted rescue activity for at least 10 days.

Kidney disease profile and encountered problems during follow-up in Syrian refugee children: a multicenter retrospective study.

BACKGROUND: Children are one of the most vulnerable groups in conflict zones, especially those with chronic diseases. This study aimed to investigate kidney disease profiles and problems during follow-up in a population of Syrian refugee children residing in Turkey. METHODS: Syrian refugee children aged between 0 and 18 years were included in the study. Demographic data, diagnosis, particular interventions due to nephrological problems, and problems encountered during follow-up were obtained from all participating pediatric nephrology centers. RESULTS: Data from 633 children from 22 pediatric nephrology centers were included. Mean age of the children was 94.8 ± 61.7 months and 375 were male (59%). 57.7% had parental consanguinity and 23.3% had a close relative(s) with kidney disease. The most common kidney diseases were congenital anomalies of the kidney and urinary tract (CAKUT) (31.0%), glomerular disease (19.9%), chronic kidney disease (CKD) (14.8%), and urolithiasis (10.7%). Frequent reasons for CAKUT were nonobstructive hydronephrosis (23.0%), vesico-ureteral reflux (18.4%), and neurogenic bladder (15.8%). The most common etiology of glomerular diseases was nephrotic syndrome (69%). Ninety-four children had CKD, and 58 children were on chronic dialysis. Six children had kidney transplantation. Surgical intervention was performed on 111 patients. The language barrier, lack of medical records, and frequent disruptions in periodic follow-ups were the main problems noted. CONCLUSIONS: CAKUT, glomerular disease, and CKD were highly prevalent in Syrian refugee children. Knowing the frequency of chronic diseases and the problems encountered in refugees would facilitate better treatment options and preventive measures.

Uteroglobin gene polymorphism (G38A) may be a risk factor in childhood idiopathic nephrotic syndrome.

BACKGROUND: Uteroglobin (UG) is a multifunctional protein with anti-inflammatory properties. The aim of this study was to first evaluate the role of UG gene G38A polymorphism in childhood idiopathic nephrotic syndrome (INS), and determine whether this variation may be related to the occurrence of INS or a steroid response. METHODS: One hundred and thirty-six children diagnosed with INS in Gaziantep University, Department of Pediatric Nephrology, and 70 healthy volunteers were included. Children with INS were divided into two groups: steroid-sensitive (n = 84), and steroid-resistant (n = 52). Samples were examined using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) enzyme method. RESULTS: The distributions of AA, GG, and AG genotypes of UG gene G38A (G/A) were 16.9%, 44.9%, and 38.2% in the all-INS group, whereas they were 14.3%, 48.8%, and 36.9% in the steroid-sensitive INS (SSINS) group compared with 21.1%, 38.5%, and 40.4% in steroid-resistant INS (SRINS), and 5.7%, 41.4%, and 52.9% in controls. The risk of INS was increased almost 4-fold in children with the AA genotype (p = 0.016). The risk of having SSINS was increased 3.5-fold (p = 0.042) whereas the risk of SRINS was increased 4.8-fold in the same genotype (p = 0.014). CONCLUSIONS: The uteroglobin gene may play an important role in the development of INS, and the AA genotype of UG gene G38A polymorphism was found more frequently in those children. Further studies evaluating all polymorphisms in larger patient groups are needed to exactly determine the effect of UG gene on the development of INS and steroid response in children.

Pediatric post-streptococcal glomerulonephritis: Clinical and laboratory data.

BACKGROUND: Acute post-streptococcal glomerulonephritis (APSGN) is the most common post-infectious glomerulonephritis in childhood. The aim of this study was therefore to identify the possible risk factor(s) responsible for decreased glomerular filtration rate (GFR) in APSGN. METHODS: The data of patients followed up with a diagnosis of APSGN in the Pediatric Nephrology Clinic of Gaziantep University Hospital between October 2014 and October 2016 were retrospectively evaluated. RESULTS: The total number of subjects was 75 (male/female, 42/33) with a mean age of 8.20 ± 3.25 years. The most common presentations were edema (86.7%), macroscopic hematuria (82.7%) and hypertension (73.3%, n = 55). On laboratory examination, 28 children (37.3%) had hypoalbuminemia, 58 (77.3%) had proteinuria, 20 (26.7%) had increased C-reactive protein (CRP), while 74 (98.7%) and 12 (16%) had decreased complement (C)3 and C4, respectively. The number of children with GFR <90 mL/min/1.73 m2 was 22 (29.3%). The risk of decreased GFR was significantly higher in patients with increased CRP (P = 0.001; OR, 3.58), hypoalbuminemia (P = 0.006; OR, 4.83), and decreased C4 (P = 0.010; OR, 11.53). Additionally, white blood cell (WBC) count, neutrophil count, and neutrophil/lymphocyte ratio (NLR) were significantly higher (P = 0.02, P = 0.006, P = 0.004, respectively) in patients with low GFR. CONCLUSIONS: Although the prognosis of APSGN in children is good, severe systemic complications and renal failure may develop during the follow-up period. Decreased C4, presence of hypoalbuminemia, and increased inflammatory markers (WBC, CRP, neutrophil count and NLR) might be possible risk factors for severity of renal involvement. Decreased C4, in particular, may be a risk factor for decreased GFR in those children.

Prevalence of hypertension determined by ambulatory blood pressure monitoring (ABPM) and body composition in long-term survivors of childhood cancer.

AIM: In recent years, survival rates of childhood cancers have significantly increased, and occurrence of long-term adverse late effects (eg, insulin resistance, diabetes mellitus, metabolic syndrome, hypertension) has become increasingly important. Early diagnosis of obesity/hypertension in childhood is essential to avoid morbidity in the adulthood. Therefore, this study was aimed to determine the blood pressure (BP) profile by ambulatory BP monitoring (ABPM) method, and prevalence of hypertension, obesity, abdominal obesity among childhood cancer survivors. MATERIAL AND METHOD: The study was carried out with 52 cancer survivors. The ABPM measurement was performed during 24 hours. The anthropometric measurements of patients were performed using standardized protocols. The body composition analysis was performed with bioelectrical impedance analysis (BIA) method. Statistical significance was considered at p < 0.05. RESULTS: The mean age of patients was 12.84 ± 3.88 years. Time off therapy ranged 24-125 month. The prevalence of prehypertension and hypertension were 57.7% and 9.6%, respectively. There was no statistically significant relationship between diagnosis and BP status (p = 0.59). The prevalence of obesity, and abdominal obesity were 1.9% and 30.4%, respectively. There was a positive correlation between waist circumference (WC) and time off therapy (p = 0.046). The WC was found to be higher in patients who received cranial irradiation (p = 0.048). Weight/WC were higher in patients who used corticosteroids in the treatment (p = 0.019). CONCLUSION: Careful follow up of BP, weight and WC is necessary for long-term cancer survivors to prevent complications. Especially patients who receive cranial radiotherapy and use corticosteroid are at increased risk of abdominal obesity.

Disruption of PTPRO causes childhood-onset nephrotic syndrome.

Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant subtype (SRNS) of INS is especially important when it occurs in children. The present study included 29 affected and 22 normal individuals from 17 SRNS families; genome-wide analysis was performed with Affymetrix 250K SNP arrays followed by homozygosity mapping. A large homozygous stretch on chromosomal region 12p12 was identified in one consanguineous family with two affected siblings. Direct sequencing of protein tyrosine phosphatase receptor type O (PTPRO; also known as glomerular epithelial protein-1 [GLEPP1]) showed homozygous c.2627+1G>T donor splice-site mutation. This mutation causes skipping of the evolutionarily conserved exon 16 (p.Glu854_Trp876del) at the RNA level. Immunohistochemistry with GLEPP1 antibody showed a similar staining pattern in the podocytes of the diseased and control kidney tissues. We used a highly polymorphic intragenic DNA marker-D12S1303-to search for homozygosity in 120 Turkish and 13 non-Turkish individuals in the PodoNet registry. This analysis yielded 17 candidate families, and a distinct homozygous c.2745+1G>A donor splice-site mutation in PTPRO was further identified via DNA sequencing in a second Turkish family. This mutation causes skipping of exon 19, and this introduces a premature stop codon at the very beginning of exon 20 (p.Asn888Lysfs*3) and causes degradation of mRNA via nonsense-mediated decay. Immunohistochemical analysis showed complete absence of immunoreactive PTPRO. Ultrastructural alterations, such as diffuse foot process fusion and extensive microvillus transformation of podocytes, were observed via electron microscopy in both families. The present study introduces mutations in PTPRO as another cause of autosomal-recessive nephrotic syndrome.

Bartter syndrome and growth hormone deficiency: three cases.

BACKGROUND: Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalemia, salt loss, and metabolic alkalosis. Short stature is one of the clinical manifestations in these children. Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of short stature in Bartter syndrome is not known. CASE DIAGNOSIS AND TREATMENT: In this study, we present three children diagnosed as having Bartter syndrome with short stature and growth hormone (GH) deficiency. After recombinant human growth hormone therapy (rhGH), their growth velocities were improved. CONCLUSIONS: These results indicate that GH deficiency may contribute to short stature in children with Bartter syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.

DD genotype of ACE gene in boys: may it be a risk factor for minimal change nephrotic syndrome?

It has been shown that angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism affects the circulating and cellular levels of ACE and may be a risk factor in several renal diseases. We analyzed the association of ACE gene I/D polymorphism with the clinical presentation of minimal change nephrotic syndrome (MCNS) in a Turkish child population. This study consisted of 97 children with MCNS and 144 healthy controls. Genotyping of ACE gene was performed using polymerase chain reaction (PCR). The distributions of ACE genotypes were II in 13%, ID in 49%, and DD in 38% in patient group, and 9%, 49%, and 42% in control group, respectively. The frequency of the D allele was 63% and that of the I allele was 37% in patients. There were no relevant differences in the allele frequencies and genotypes of ACE I/D polymorphism between patients and controls. However, DD genotype was higher in boys in children with MCNS (78.4%. vs. 50.0%, p = 0.004). The frequencies of DD genotype and D allele in boys were 7.25 and 2.56 times higher than II genotype and I allele in the patient group, respectively. We suggest that DD genotype in boys may be one of the risk factors for MCNS.

Renal biopsy in children with IgA vasculitis.

INTRODUCTION: Henoch-Schönlein purpura nephritis (HSN) is defined as Henoch-Schönlein purpura with kidney involvement, including hematuria and/or proteinuria. The aim of this study was to evaluate the data of HSN patients who underwent renal biopsy, and compare the main clinical and laboratory parameters that may affect renal biopsy findings, treatment protocols, and short- and long-term outcome of those patients. METHODS: Biopsies performed in 72 HSN patients between January 2007 to January 2017 were retrospectively evaluated. They were divided into two groups according to renal biopsy classification of the International Study of Kidney Disease in Children. Renal outcome, clinical and laboratory parameters, treatment protocols, and outcome were compared between groups. Short- and long-term follow-up of patients were evaluated. RESULTS: Of 72 patients, 47 were male (65.3%) and 44 (61.1%) were ≤10 years of age. Neutrophil-lymphocyte ratio was found higher in patients with scrotal involvement (p=0.042). Short-term unfavorable outcome was significantly higher in patients with scrotal involvement (p=0.038). Patients with hypertension and decreased creatinine clearance were found to have more unfavorable outcomes in long-term follow-up (p=0.029, p=0.040). CONCLUSION: Cyclosporin-A and cyclophosphamide could be effective in steroid unresponsive HSN patients. Patients with scrotal involvement, decreased creatinine clearance, and hypertension should be closely monitored for sequelae of HSN.

Hyponatremic-hypertensive Syndrome in a 19-month-old Boy with Renovascular Hypertension.

Hyponatremic-hypertensive syndrome (HHS) is an uncommon disorder rarely seen in children. Herein, we report a 19-month-old boy with HHS. He had severe hypertension, polyuria, polydipsia, vomiting, and seizure at presentation. Laboratory findings revealed hyponatremia, hypokalemia, metabolic alkalosis, proteinuria, hypercalciuria, high levels of renin and aldosterone, and renal artery stenosis. All symptoms resolved after nephrectomy. Clinicians should be aware of this syndrome because prompt recognition can be lifesaving.

Increased potassium excretion in children with monosymptomatic nocturnal enuresis: could it be related to Kir 4.1- KCNJ10 gene polymorphism?

BACKGROUND AND OBJECTIVES: There are controversial results in the literature regarding urinary electrolytes, especially potassium, in enuretic children. KCNJ10 channel protein, a member of the Kir 4.1 family is expressed in renal distal tubules and has an important function in renal ion transport. We investigated whether KCNJ10 gene polymorphisms are associated with clinical and laboratory findings of a group of Turkish children with monosymptomatic primary nocturnal enuresis (MNE). METHOD: Ninety-seven MNE children and 100 healthy controls were tested for three single nucleotide polymorphisms (SNPs) in the KCNJ10 gene. The transversions in SNPs were G to A for intron 1(SNP1), G to A for exon 2 (SNP2), and T to C transition for promoter (SNP3). All SNPs were genotyped by PCR-restriction fragment length polymorphism. RESULTS: SNP3 in promoter of KCNJ10 gene showed strong association with MNE children for distribution of genotype and allele frequency, while SNP1 in intron 1 and SNP2 in exon 2 were noninformative. The distribution of TT, TC, and CC genotypes for SNP3 was 66%, 26.8% and 7.2% respectively in MNE compared with 38%, 59% and 3% respectively in controls (p < 0.0001). In enuretic children, TT genotype was higher and there was an increased potassium excretion in children with TT genotype (P < 0.05). CONCLUSION: We conclude that KCNJ10 gene promoter polymorphism may have a role on potassium excretion in Turkish MNE children. This is the first study in literature evaluating KCNJ10 gene polymorphism in this patient population. Future studies investigating the other SNPs, mutations or altered regulation of Kir4.1 in larger samples would help clarify the role (s) of KCNJ10 gene in enuresis.

Kidney Disease Profile of Syrian Refugee Children.

INTRODUCTION: Although preventative nephrology is the effective management of childhood kidney diseases, it is hard to provide it in this undesirable conditions. In this study, we aimed to document the kidney disease profile of Syrian refugee children admitted to our hospital. MATERIALS AND METHODS: One hundred and thirty Syrian refugee children were admitted to the Pediatric Nephrology Department of the University of Gaziantep from September 2012 to January 2015. Demographic data, history, symptoms, physical examination findings, laboratory investigations, diagnosis, disease outcome, and therapeutic procedures such as peritoneal dialysis and hemodialysis were obtained from patient files. RESULTS: Of the 130 admitted children, 74 were girls (59.6%). The average age was 6.97 ± 4.2 years (range, 1 month to 17 years). Congenital abnormalities of the kidney and urinary tract were found in 34 children (26.2%). Other morbidities were chronic kidney disease in 30 (23.1%), nephrotic syndrome in 24 (18.5%), urolithiasis in 9 (6.9%), acute kidney injury in 4 (3.1%), glomerulonephritis in 5 (3.8%), enuresis in 12 (9.2%), and others in 12 (9.2%). CONCLUSIONS: Congenital abnormalities of the kidney and urinary tract and chronic kidney disease were highly prevalent in Syrian refugee children. Although free health care have been provided to all of these children, the continuation of political crisis and instability would increase the number of admissions and affect the quality of life of those children in a different environment from the home country.

Renal biopsy in children with IgA vasculitis / Biópsia renal em crianças com vasculite por IgA

Abstract Introduction Henoch-Schönlein purpura nephritis (HSN) is defined as Henoch-Schönlein purpura with kidney involvement, including hematuria and/or proteinuria. The aim of this study was to evaluate the data of HSN patients who underwent renal biopsy, and compare the main clinical and laboratory parameters that may affect renal biopsy findings, treatment protocols, and short- and long-term outcome of those patients. Methods Biopsies performed in 72 HSN patients between January 2007 to January 2017 were retrospectively evaluated. They were divided into two groups according to renal biopsy classification of the International Study of Kidney Disease in Children. Renal outcome, clinical and laboratory parameters, treatment protocols, and outcome were compared between groups. Short- and long-term follow-up of patients were evaluated. Results Of 72 patients, 47 were male (65.3%) and 44 (61.1%) were ≤10 years of age. Neutrophil-lymphocyte ratio was found higher in patients with scrotal involvement (p=0.042). Short-term unfavorable outcome was significantly higher in patients with scrotal involvement (p=0.038). Patients with hypertension and decreased creatinine clearance were found to have more unfavorable outcomes in long-term follow-up (p=0.029, p=0.040). Conclusion Cyclosporin-A and cyclophosphamide could be effective in steroid unresponsive HSN patients. Patients with scrotal involvement, decreased creatinine clearance, and hypertension should be closely monitored for sequelae of HSN.

Resumo Introdução A nefrite da púrpura de Henoch-Schönlein (NPHS) é definida como púrpura de Henoch-Schönlein com envolvimento renal, incluindo hematúria e/ou proteinúria. O objetivo deste estudo foi avaliar os dados de pacientes com NPHS que foram submetidos à biópsia renal e comparar os principais parâmetros clínicos e laboratoriais que podem afetar os achados da biópsia renal, os protocolos de tratamento e o desfecho de curto e longo prazo desses pacientes. Métodos Foram avaliadas retrospectivamente biópsias realizadas em 72 pacientes com NPHS entre Janeiro de 2007 e Janeiro de 2017. Eles foram divididos em dois grupos de acordo com a classificação de biópsia renal do Estudo Internacional de Doenças Renais em Crianças. O desfecho renal, parâmetros clínicos e laboratoriais, protocolos de tratamento e desfechos foram comparados entre os grupos. Foi avaliado o acompanhamento de pacientes de curto e longo prazo. Resultados De 72 pacientes, 47 eram homens (65,3%) e 44 (61,1%) tinham ≤10 anos de idade. A razão neutrófilo-linfócito foi encontrada mais alta em pacientes com envolvimento escrotal (p=0,042). O desfecho desfavorável de curto prazo foi significativamente maior em pacientes com envolvimento escrotal (p=0,038). Constatou-se que pacientes com hipertensão e diminuição da depuração de creatinina apresentaram desfechos mais desfavoráveis no acompanhamento de longo prazo (p=0,029, p=0,040). Conclusão A ciclosporina-A e a ciclofosfamida podem ser eficazes em pacientes com NPHS não responsivos a esteroides. Pacientes com envolvimento escrotal, diminuição da depuração de creatinina e hipertensão devem ser monitorados de perto para sequelas de NPHS.

May the best friend be an enemy if not recognized early: hypernatremic dehydration due to breastfeeding.

Hypernatremic dehydration is a serious condition in the newborn period. We present 5 infants with hypernatremic dehydration due to breastfeeding; one of them died because of brain edema during treatment.Hypernatremic dehydration in breast-fed newborns is secondary to insufficient lactation and all mothers should be encouraged about breastfeeding, taught the signs of successful breastfeeding, and the warning signs of dehydration. Here, we discuss hypernatremic dehydration in breastfeeding neonates, its causes and treatment.

The effects of gemfibrozil on hyperlipidemia in children with persistent nephrotic syndrome.

Persistent nephrotic syndrome is frequently accompanied by severe hyperlipidemia, and this may pose a substantial risk for cardiovascular disease. Lipid-lowering drugs are prescribed by many nephrologists for adult patients but rarely for nephrotic children. The present investigation was designed to evaluate the safety and efficacy of gemfibrozil in nephrotic children. Eight girls and four boys aged from 5 to 17 years were enrolled in this study. They were all steroid and immunosuppressive resistant patients with nephrotic range proteinuria. Placebo was administered to five patients and gemfibrozil was administered to seven patients for four months. Blood samples were taken for the determination of cholesterol, triglyceride, low-density lipoprotein (LDL), high-density lipoprotein (HDL), BUN, serum creatinine (Scr), ALT, AST, CPK, apolipoprotein A (apo A), apoliporotein B (apo B), and serum albumin levels during the initial and subsequent examinations. At the end of the fourth month, gemfibrozil reduced total cholesterol by 34%, LDL by 30%, apo B by 21% and triglycerides by 53% (p < 0.05). HDL cholesterol and apo A levels were not significantly altered. Renal function and urine protein excretion were not affected by gemfibrozil. In this study gemfibrozil therapy had no side effects and had favorable effects on the lipoprotein profile of nephrotic patients.

Autoimmune polyglandular syndrome type 3c with ectodermal dysplasia, immune deficiency and hemolytic-uremic syndrome.

Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocrine organs. These autoantibodies are responsible for the dysfunction of the affected organs and sometimes may also cause non-endocrine organ dysfunction. The hemolytic-uremic syndrome (HUS) is a serious and life-threatening disease which develops due to many etiological factors including autoimmune disorders. Here, we present an unusual case of APS. Ectodermal dysplasia with immune deficiency and HUS occurred concomitantly in the same patient with APS type 3c. Once the autoantibody generation was initiated in the human body, development of multiple disorders due to organ dysfunction and also autoantibody-related diseases may have occurred.

Colchicine treatment in children with familial Mediterranean fever: is it a risk factor for neuromyopathy?

BACKGROUND: We cared for a 17-year-old adolescent with familial Mediterranean fever under colchicine treatment. Because of the increased creatinine kinase level (3937 U/L) observed in this individual, we planned to assess all pediatric patients with familial Mediterranean fever under colchicine treatment to detect any resultant neuromyopathy. METHODS: The study included 88 children with familial Mediterranean fever who were receiving colchicine. The patient with myopathy was not included in the study. Serum creatinine kinase levels were measured and nerve conduction studies were carried out in all patients. RESULTS: The study included 88 patients (47 female, 53.4%) with an average age of 10.1 ± 3.35 years. The average period of colchicine use was 28.25 ± 17.66 months. Side effects of colchicine were detected in 10 patients (11%)--as diarrhea in eight patients, leukopenia in one patient, and hair loss in one patient. Nerve conduction studies determined incidental carpal tunnel syndrome in only one patient. CONCLUSIONS: Our study did not suggest an elevated risk of neuromyopathy associated with the use of colchicine for familial Mediterranean fever.

Association of eNOS gene intron 4 a/b VNTR polymorphisms in children with nephrotic syndrome.

To investigate the association of endothelial nitric oxide synthase gene intron 4 (eNOS4) polymorphisms with nephrotic syndrome, the eNOS4 genotypes were assessed in 161 children with nephrotic syndrome in comparison with 78 healthy subjects. We classified the children with nephritic syndrome into 2 groups: as steroid-sensitive nephrotic syndrome (SSNS) (n=125) and steroid-resistant nephrotic syndrome (SRNS) (n=36). The eNOS4 polymorphisms were analyzed by polymerase chain reaction. The frequencies of eNOS4 aa, ab and bb genotypes were 3%, 31%, and 66% in all the nephrotic syndrome groups, and 1%, 23%, and 76% in the control group (x(2)=2.87, p>0.05). In addition, the frequencies of eNOS4 aa, ab and bb genotypes were 2%, 33%, and 65% in SSNS group, and 5%, 28%, and 67% in the SRNS group (x(2)=1.13, p=0.567). The present study is the first to investigate eNOS4 gene polymorphisms in children with SSNS and SRNS. Our data show that the eNOS4 gene polymorphisms were not associated with the development, frequent relapse and response to steroid in nephritic syndrome.

Urotensin-II: More Than a Mediator for Kidney.

Human urotensin-II (hU-II) is one of the most potent vasoconstrictors in mammals. Although both hU-II and its receptor, GPR14, are detected in several tissues, kidney is a major source of U-II in humans. Recent studies suggest that U-II may have a possible autocrine/paracrine functions in kidney and may be an important target molecule in studying renal pathophysiology. It has several effects on tubular transport and probably has active role in renal hemodynamics. Although it is an important peptide in renal physiology, certain diseases, such as hypertension and glomerulonephritis, may alter the expression of U-II. As might be expected, oxidative stress, mediators, and inflammation are like a devil's triangle in kidney diseases, mostly they induce each other. Since there is a complex relationship between U-II and oxidative stress, and other mediators, such as transforming growth factor ß1 and angiotensin II, U-II is more than a mediator in glomerular diseases. Although it is an ancient peptide, known for 31 years, it looks like that U-II will continue to give new messages as well as raising more questions as research on it increases. In this paper, we mainly discuss the possible role of U-II on renal physiology and its effect on kidney diseases.