Henoch-Schönlein nephritis: a nationwide study.

BACKGROUND/AIM: The aim of this retrospective study was to evaluate the presentation, clinical and pathological manifestations and outcome of the Henoch-Schönlein purpura (HSP) nephritis in children. METHODS: Clinical and laboratory data of 443 children with HSP nephritis aged between 3 and 16 years from 16 pediatric nephrology reference centers were analyzed retrospectively. The biopsy findings were graded according to the classification developed by the International Study of Kidney Disease in Children (ISKDC). RESULTS: Renal biopsy was performed in 179 of the patients with HSP nephritis. The most common presenting clinical finding in patients who were biopsied was nephrotic range proteinuria (25%) which was followed by nephritic-nephrotic syndrome (23.5%). The biopsy findings according to the ISKDC were as follows: class I: 8.3%; II: 44.1%; III: 36.3%; IV: 6.7%; V: 3.3%; VI: 1.1%. All of the patients who developed end-stage renal disease had nephritic-nephrotic syndrome at presentation. Of 443 patients, 87.2% had a favorable outcome and 12.8% had an unfavorable outcome. The overall percentage of children who developed end-stage renal disease at follow-up was 1.1%. Logistic regression analysis did not show any association of initial symptoms and histology with outcome. CONCLUSION: In the presented cohort, the presence of crescents in the first biopsy or presenting clinical findings did not seem to predict the outcome of HSP nephritis in children. We conclude that children with HSP nephritis even with isolated microscopic hematuria and/or mild proteinuria should be followed closely.

Incidence of the MTHFR polymorphisms in patients with varicose veins.

BACKGROUND: Varicose vein disease is one of the most common inherited disorders worldwide that causes mental, cosmetic, medical, and socio-economic problems. Varicose vein formation is thought to be multifactorial and often develops through the interaction of environmental and genetic risk factors. Its incidence displays a trend parallel to the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism worldwide. The objective of this study was to determine the incidence of MTHFR C677T and A1298C mutations in Turkish patients with varicose veins. MATERIAL AND METHODS: Our study included 98 patients with varicose veins; twenty-nine (29.6 %) males and 69 (70.4 %) females, with a mean age of 52.9 ± 14.7 (age range: 12-83) years. Polymorphisms were investigated by polymerase chain reaction (PCR) which is an enzymatic reaction of DNA amplification, and allele-specific hybridization. RESULTS: The homozygous MTHFR C677T polymorphism was detected in 13 (13.3 %), and heterozygous MTHFR C677T polymorphism in 37 (37.7 %) patients. The homozygous and heterozygous MTHFR A1298C polymorphisms were found in nine (9.2 %), and 47 (47.9 %) patients, respectively. The combined double heterozygous genotype MTHFR C677T/MTHFR A1298C was identified in 19 (19.4 %) patients. The rates of factor V Leiden (FVL) and prothrombin gene (PT G20210A) polymorphisms were found as 11.2 %, and 4.1 %, respectively. Additionally, the majority of patients with thrombosed varicose veins were accompanied by FLV polymorphism. CONCLUSION: Our findings display that the rates of MTHFR C677T and A1298C genotypes are similar between patients with varicose veins and healthy subjects in Turkish society. However, should FLV or PG G20210A polymorphisms accompany these polymorphisms, then there might be a tendency to development of superficial venous thrombosis. Further studies are required to support these findings. HIPPOKRATIA 2017, 21(4): 175-179.

The "nutcracker phenomenon" with orthostatic proteinuria: case reports.

The nutcracker phenomenon refers to compression of the left renal vein between the aorta and the superior mesenteric artery. Clinical features are hematuria, abdominal pain, left flank pain, pelvic or scrotal discomfort due to varicocele or ovarian vein syndrome. In this report, 2 patients with orthostatic proteinuria, in whom nutcracker phenomenon was detected as a cause, are presented. One of them had posterior nutcracker with also asymptomatic varicocele that was detected during ultrasonographic examination. Nutcracker phenomenon is a rare but important clinical condition that should be considered in the differential diagnosis of patients with proteinuria and hematuria.

The prevalence of Factor V Leiden, prothrombin G20210A, MTHFR C677T and MTHFR A1298C mutations in healthy Turkish population.

BACKGROUND: Factor V Leiden (FVL), prothrombin gene (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms are the main biomarkers used in the evaluation of tendency to venous thromboembolism. Our study aimed to investigate the distribution frequencies of these polymorphisms in healthy Turks living in the urban Yozgat region.  MATERIAL AND METHODS: This study included 90 blood donor candidates. All the donors were apparently healthy, and there was no family relationship between them. Mutations including FVL, PT G20210A, and MTHFR (C677T, A1298C) were investigated in all participants. Screening of polymorphisms was carried out using the SNaPshot® multiplex system. RESULTS: There were 42 male and 48 female individuals with age range 17-78 years and mean age 47.5 ± 13.6 years. The heterozygous FVL mutation was noted in 17 (10 male and seven female) donors (19%). FVL mutation was more frequently encountered in males than in females (23.8% vs. 12.5%). The heterozygous PT G20210A mutation was observed in five (5.5%) of the 90 (three male, two female) donors. The prevalence of homozygous polymorphisms of MTHFR C677T was 8.8% and of MTHFR A1298C 13.3%. On the other hand, four of the 90 participants (4.4%) carried none of these polymorphisms. CONCLUSION: This study showed that the prevalence of FVL, PT G20210A, MTHFR C677T and MTHFR A1298C polymorphisms is quite high, and the coexistence of FVL with other genotypes is not rare in a healthy Turkish population living in the Yozgat region. Of course, further detailed studies should be performed to support these findings. Hippokratia 2015; 19 (4): 309-313.

QT/corrected QT (QTc) intervals and QT/QTc dispersions in children with chronic renal failure.

UNLABELLED: We aimed to examine QT/corrected QT (QTc) intervals, QT/QTc dispersions (QTD/QTcD) and also the effect of different clinical and laboratory variables on these parameters in children with chronic renal failure. Serum biochemistry, 12-lead electrocardiogram, telecardiogram, and echocardiography were performed in 50 children with chronic renal failure (23 female and 27 male; aged 12.3+/-3.6 years, range 5 to 20 years). None of them had symptoms related to arrhythmias. When compared with a control group (372 children, aged 7 to 18 years, mean 12.4+/-2.6) patients with chronic renal failure had greater QT/QTc intervals and QT/QTc dispersion values (Patient: QT = 360.9+/-53.3; QTc = 438.5+/-33.2; QTD = 42.4+/-20.8; QTcD = 57.5+/-23.8; CONTROL: QT = 325.9+/-24.1; QTc = 398.7+/-19.7; QTD = 29.9+/-10.2; QTcD = 47.3+/-16.6; P<0.01). QT, QTc, and QTcD values were significantly greater in patients who had renal failure duration longer than 2 years. Patients who had impaired left ventricular systolic function on echocardiogram had greater QTc, QTD, and QTcD values. It was found that sex, cardiomegaly on chest X-ray, and left ventricular hypertrophy on echocardiogram were not related to these parameters. It is concluded that, impaired cardiac systolic function and longer renal failure duration are related to an increase in QT, QTc, QTD, and QTcD values and hence these variables may be risk factors for ventricular arrhythmias in uremic patients.

Hypopotassemic paralysis: a rare presentation of proximal renal tubular acidosis.

Neurologic manifestations can accompany systemic diseases, and primary disease can be identified with a careful history, physical examination, and laboratory investigations. A 14-year-old girl with paraplegia and absence of deep tendon reflexes in the lower extremities after 2 days of vomiting and diarrhea was referred to our pediatric neurology department with a diagnosis of Guillain-Barré syndrome. Short stature, dehydration, motor and mental retardation, bilateral cataracts, glaucoma, and band keratopathy were detected on physical examination. Hypopotassemia and severe metabolic acidosis were found on biochemical examination. Her paraplegia improved after appropriate fluid and electrolyte replacement, but metabolic acidosis persisted after cessation of intravenous therapy, and isolated proximal renal tubular acidosis was detected. Because she had isolated proximal renal tubular acidosis and other abnormalities, she was diagnosed with Donckerwolcke-Winsnes syndrome.

Impact of dialysis adequacy on cardiac function in pediatric CAPD patients.

BACKGROUND: Left ventricular hypertrophy is a major cause of morbidity and mortality among patients with chronic renal failure. Uremia-related risk factors play a fundamental role in its occurrence, thus better prognosis and prolonged survival can be attained by successful dialytic therapies. OBJECTIVE: To investigate whether dialysis adequacy has a beneficial effect on cardiac structure and function in children receiving continuous ambulatory peritoneal dialysis (CAPD). DESIGN: Cross-sectional study in the Pediatric Peritoneal Dialysis Unit of a university hospital. PATIENTS: Eighteen children, aged 13.3 +/- 2.8 years, being treated with CAPD, and 20 healthy age- and sex-matched control subjects were enrolled in this study. MAIN OUTCOME MEASURES: Echocardiographic evaluation was performed in all subjects. Dialysis adequacy indices [weekly urea (Kt/V) and creatinine clearance (TCCr)] were calculated in the dialysis group. RESULTS: Interventricular septal thickness, left ventricular (LV) posterior wall thickness, LV mass index (LVMI), and LV end systolic and diastolic dimensions were all found to be significantly higher in the CAPD group compared to the control subjects (p < 0.01). Ejection fraction and fractional shortening of the LV were not significantly different between the two groups. Mean Kt/V was 2.02 +/- 0.71 and mean TCCr was 58 +/- 33 L/wk/1.73 m2. There were significant negative correlations between dialysis adequacy indices and LV end systolic and diastolic dimensions (p < 0.05 and p < 0.001). Ejection fraction and fractional shortening were positively correlated with Kt/V (p < 0.01). Systolic and diastolic blood pressures were positively correlated with LVMI (r= 0.501 and r = 0.523). Significant inverse correlations between mean arterial pressure and both Kt/V and TCCr (r = -0.555 and r = -0.520) were detected. CONCLUSION: These data clearly document that cardiac structure and function are remarkably influenced by the uremic state and dialysis therapy in pediatric CAPD patients. The close relationships between echocardiographic findings and dialysis adequacy indices suggest that adequate dialysis has a beneficial effect on cardiac function via effective removal of toxic substances.

Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers.

Deficiency of carbonic anhydrase II (CA II) isoenzyme produces metabolic disorders of bone, kidney and brain. In this report we describe the clinical, radiological, pathological and genetic findings in three brothers who were affected with the autosomal recessive syndrome of osteopetrosis, renal tubular acidosis (RTA) and cerebral calcification. The RTA was hybrid type, but urinary concentration ability was intact. Additional features were severe mental retardation, stunted growth, microcephaly, dental malocclusion, high-arched palate, and broad thumbs. Previous reported patients with this syndrome were predominantly from the Middle East and Mediterranean region. This is the first report with CA II deficiency from the Turkish population. The presence of mental retardation and relative infrequency of skeletal fractures in our patients resembles the clinical course of patients with the Arabic mutation of the CA II gene, but this mutation was not found in our patients.

Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome.

The concurrence of ambiguous genitalia, nephropathy and predisposition to Wilms' tumor are characteristics of Denys-Drash syndrome. Some of the reported patients do not express the full spectrum of the syndrome, while the occurrence of nephropathy has become a generally accepted common feature of this syndrome. We report an infant with male pseudohermaphroditism due to partial gonadal dysgenesis and nephropathy without Wilms' tumor but with a Wilms' tumor suppressor gene (WT1) mutation. The high risk of Wilms' tumor mandates regular surveillance and the use of prophylactic bilateral nephrectomy as a treatment is not yet clear.

Fibromuscular dysplasia of the renal arteries treated with percutaneous transluminal renal angioplasty: a case report.

A nine-year-old girl with renovascular hypertension is presented. The diagnosis of fibromuscular dysplasia was established by selective renal angiography, and percutaneous transluminal renal angioplasty was performed. After successful dilation, the blood pressure returned to normal. The patient has been followed for a year and there is no evidence of hypertension.

The correlation between the clinical, laboratory and histopathological features of childhood membranoproliferative glomerulonephritis and response to treatment.

In this study, the clinical, laboratory and histopathological features of 50 children with membranoproliferative glomerulonephritis are reviewed. Age distribution varied from 5 to 15 years. The clinical presentation in the patients was nephrotic syndrome (24%), acute nephritic syndrome (20%) and nephritic/nephrotic syndrome (56%). Hypertension, macroscopic hematuria and hypocomplementemia were present in 40 percent, 58 percent and 34 percent of the patients, respectively. Light microscopic findings were as follows: glomerular lobulation (36%), mesangial sclerosis (20%), tubulointerstitial findings (36%), and crescents (26%). C3 (93%) was the most common immunofluorescence and IgM (86%), the most frequently encountered immunoglobulin. Response to treatment could not be anticipated by the initial clinical and laboratory features. Patients who did not have tubulointerstitial changes tended to have a greater response to therapy.

Unilateral renal atrophy and hypertension (imaging techniques in children with hyperreninaemic hypertension) (a case report).

A ten-year-old boy with hyperreninaemic hypertension is described. He had a normally functioning right kidney, as confirmed by ultrasonography and renal scintigraphy. Renal angiography was performed but the left kidney and the left renal artery could not be detected. Computerized tomography revealed a rudimentary atrophic left kidney. Nephrectomy was carried out and the blood pressure returned to normal.

Haemostatic parameters in childhood nephrotic syndrome. (Is there any difference in protein C levels between steroid sensitive and resistant groups?)

Plasma protein C (PC) activity, prothrombin time (PT), partial thromboplastin time (PTT) and platelet count were studied in 23 children with nephrotic syndrome (NS) and AT III activity was determined in 15 children in the same group. All parameters were compared with those obtained in a group of 16 age matched healthy controls. Mean plasma AT III activity was significantly reduced in patients with NS (P < 0.001) correspondingly, plasma AT III levels were found to be directly correlated with serum albumin and inversely correlated with proteinuria. In contrast, mean plasma PC activity, as well as PT, PTT and platelet count were similar in the NS group when compared with the control group and in addition no remarkable difference was found in the mean plasma PC activity between the steroid sensitive and resistant NS groups. In conclusion, this study demonstrated acquired AT III deficiency and normal PC levels in childhood NS. These data suggest that although plasma AT III activity depends on the severity of NS, neither the severity of NS nor the underlying renal disease is an important factor determining the changes of PC activity in childhood NS.

Vaginal ectopic ureter in a duplex system with renal dysplasia. A case report.

A 12-year-old girl with vaginal ectopic ureter in a duplex system associated with an extremely dysplastic upper segment who presented with a complaint of vaginal discharge is reported. The diagnostic approach with special reference to ultrasonography and computerized tomography is discussed.

Pharmacokinetics of recombinant human erythropoietin in children with chronic renal failure.

Basal erythropoietin (Epo) levels and single dose-pharmacokinetics of recombinant human erythropoietin (rhuEpo) were investigated in 8 predialysis (PD) patients (mean age 11.6 +/- 1.4 years) and in 8 patients on continuous ambulatory peritoneal dialysis (CAPD) (mean age 12.7 +/- 0.6 years). Basal Epo levels were found to be 1.0 +/- 0.0 mu/ml in PD group, 1.6 +/- 0.7 mu/ml in CAPD group and 8.5 +/- 1.8 mu/ml in control group. Following administration of 50 mu/kg rhuEpo (s.c.) serum Epo concentration (Cmax) was 23.2 +/- 2.5 mu/ml in 18.5 +/- 2.6 hours (tmax) in PD patients and 9.9 +/- 0.8 mu/ml in 26.8 +/- 7.7 hours in CAPD patients. Mean elimination half-lives (t1/2) were 13.3 +/- 1.9 hours and 13.5 +/- 3.0 hours in PD patients and CAPD patients, respectively. The volume of distribution (Vd) was 840.0 +/- 100.0 ml/kg; the clearance (Epo Cl) was 37.0 +/- 5.5 ml/kg/hour in PD patients. These values were significantly lower in PD patients than in CAPD patients (p < 0.05) (Vd; 1500 +/- 240.0 ml/kg; Epo Cl 110 +/- 30.0 ml/kg/hour). During the course of CAPD, more efficient clearance of uraemic toxins that inhibit erythropoiesis and more rapid extraction of erythropoietin by erythroid precursors may cause higher Vd in CAPD patients than in PD patients.

Pediatric renal transplantation: a single center experience.

Renal transplantation is the treatment of choice for children with end-stage renal disease. The aim of this study was to evaluate retrospectively of our 37 pediatric renal allograft recipients, including 20 boys and 17 girls from July 2007 to August 2012. The overall mean age at transplantation was 12.16 ± 4.25 years. Three patients (8.1%) were transplanted preemptively; two were ABO-incompatible transplantations. The majority of recipients received living donor grafts (81%). The mean duration of follow-up was 25.10 ± 14.95 months. Seven acute rejection episodes were observed in 6 patients (16.2%). Eleven recipients developed serious viral infections: cytomegalovirus (n = 8), parvovirus (n = 2), BK virus (polyoma hominis 1) (n = 2), or Ebstein-Barr virus (n = 1). Three patients died; one from posttransplant lymphoproliferative disease, one from primary disease recurrence with infection, and one from sepsis. In conclusion, kidney transplantation is the treatment of choice for end-stage renal disease. Infection was the major concern after this procedure.

The value of the levels of acute phase reactants for the prediction of familial Mediterranean fever associated amyloidosis: a case control study.

In order to determine the role of levels of acute phase proteins (APPs) for the development of amyloidosis in familial Mediterranean fever (FMF) patients, the levels of serum amyloid A (SAA), C reactive protein (CRP), fibrinogen and erythrocyte sedimentation rate were measured in paired sera of 36 FMF patients during and in between acute attacks, 39 of their healthy parents (obligate heterozgotes), and 15 patients with FMF associated amyloidosis. To compare the levels of APPs, 39 patients with chronic infections or inflammatory diseases who may develop secondary amyloidosis, 20 patients with acute infections who are known to have elevated acute phase response but will never develop amyloidosis and 19 healthy controls were included. The median levels of all APPs are increased in the patients with FMF during attacks and a significant decrease was observed after the attack was over. The level of SAA was above reference range in all FMF patients during the attack free period and the level of at least one other APP was also above normal in 64% of the patients. Both CRP and SAA levels were found to be higher in obligate heterozygotes compared to controls. The levels of SAA in patients with FMF during the attack-free period, obligate heterozygotes and patients with FMF-amyloidosis were found to be similar. The levels in each group were found to be higher than SAA levels found in healthy controls yet lower than the levels measured in the patients with acute infections and patients with chronic inflammation or chronic infections. In conclusion, our results show that SAA level reflects subclinical inflammation with high sensitivity but its value for the prediction of amyloid formation process seems to be low.