Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome:an international cross-sectional study

Background:Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. Methods:Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Paediatric Nephrology (ESPN). Results:A total of 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I and II had the highest median PTH level (7.5 pmol/L) and 56% had hyperparathyroidism (PTH &gt;7.0 pmol/L). Serum calcium was slightly lower in Bartter syndrome type I and II patients with hyperparathyroidism (2.42 versus 2.49 mmol/L; P = .038) compared to those with normal PTH levels and correlated inversely with PTH (rs −0.253; P = .009). Serum phosphate and urinary phosphate excretion did not correlate with PTH. Overall, 22% of patients had low serum phosphate levels (phosphate—standard deviation score &lt; −2), with the highest prevalence in patients with Bartter syndrome type III (32%). Serum phosphate correlated with tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) (rs 0.699; P &lt; .001), suggesting renal phosphate wasting. Conclusions:Hyperparathyroidism is frequent in patients with Bartter syndrome type I and II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting.</p

Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis : A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network

While children approaching end-stage kidney disease (ESKD) are considered at risk of uremic anorexia and underweight they are also exposed to the global obesity epidemic. We sought to investigate the variation of nutritional status in children undergoing chronic peritoneal dialysis (CPD) around the globe. The distribution and course of body mass index (BMI) standard deviation score over time was examined prospectively in 1001 children and adolescents from 35 countries starting CPD who were followed in the International Pediatric PD Network (IPPN) Registry. The overall prevalence of underweight, and overweight/obesity at start of CPD was 8.9% and 19.7%, respectively. Underweight was most prevalent in South and Southeast Asia (20%), Central Europe (16.7%) and Turkey (15.2%), whereas overweight and obesity were most common in the Middle East (40%) and the US (33%). BMI SDS at PD initiation was associated positively with current eGFR and gastrostomy feeding prior to PD start. Over the course of PD BMI SDS tended to increase on CPD in underweight and normal weight children, whereas it decreased in initially overweight patients. In infancy, mortality risk was amplified by obesity, whereas in older children mortality was markedly increased in association with underweight. Both underweight and overweight are prevalent in pediatric ESKD, with the prevalence varying across the globe. Late dialysis start is associated with underweight, while enteral feeding can lead to obesity. Nutritional abnormalities tend to attenuate with time on dialysis. Mortality risk appears increased with obesity in infants and with underweight in older children.Peer reviewe

Protein-osmolality ratio for quantification of proteinuria in children

WOS: 000259246800006PubMed ID: 18425406Proteinuria is an important factor for renal injury and prognosis in many diseases. The most valuable method for evaluation of proteinuria is quantitative protein analysis in appropriately 24-h collected urine. But urine collection is difficult and cumbersome especially in children and working adults. The aim of the present study is to define the usefulness of urinary protein/urine osmolality (Uprot/Uosm) ratio in quantification of proteinuria. One hundred and seventy-one patients whose age ranged between 3 and 14 years were included in the study. Uprot/Uosm (r = 0.85, P < 0.001) and urinary protein/creatinine Uprot/Ucrea (r = 0.81 and P < 0.001) ratios were significantly correlated with 24-h protein excretion. Twenty-four-hour protein excretion was correlated with Uprot/Ucrea (r = 0.76, P < 0.001) and Uprot/Uosm (r = 0.79, P < 0.001) ratios in proteinuric group. But, there was no correlation between Uprot/Uosm and Uprot/Ucrea ratios with 24-h protein excretion in non-proteinuric group. The positive and negative predictive value of Uprot/Uosm ratio of 0.28 mg/l/mOsm/kg was 89.9 and 90.8% and Uprot/Ucrea ratio of 0.24 mg/mg was 85.7 and 90% for estimating proteinuria (above 4 mg/m(2) h(-1)). The 95th percentile of Uprot/Uosm ratio was 0.25 mg/l/mOsm/kg and Uprot/Ucrea ratio was 0.27 mg/mg in normal group. The best estimate was Uprot/Uosm ratio of 1.42 (sensitivity 100%, specificity 94.9%) and Uprot/Ucrea ratio of 0.75 (sensitivity 100%, specificity 92.9%) for nephrotic proteinuria (40 mg/m(2) h(-1)). Uprot/Uosm which is a reliable and simple method can be used for quantification of proteinuria in pediatric patients with normal renal function. Using Uprot/Uosm ratio for quantification of proteinuria can remove the necessity of 24-h urine collection, urine creatinine measurement and spending additional cost and time if the center measures the urine osmolality routinely in urine analysis

HEREDITARY HYPOMAGNESAEMIA WITH SECONDARY HYPOCALCEMIA: REPORT OF TWO SIBLINGS WITH LONG-TERM FOLLOW-UP

WOS: 00044399840033

Does Mannose-Binding Lectin Gene Polymorphism in Pediatric Patients Undergoing Peritoneal Dialysis Cause Susceptibility to the Development of Peritonitis?

Objective: This study aims to investigate the relationship between peritonitis attacks and mannose-binding lectin (MBL) gene polymorphism in patients undergoing peritoneal dialysis

What is the Role of Mannose-Binding Lectin Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis?

Objective: This study aims to determine the effects of the mannose-binding lectin (MBL) gene polymorphism on the clinical and laboratory findings, response to treatment, and progress of patients with acute post-streptococcal glomerulonephritis (APSGN). Methods: Codon 54 polymorphism found in exon 1 of the MBL gene was investigated by polymerase chain reaction-restriction fragment length polymorphism method in 110 children followed up with the diagnosis of APSGN and compared with healthy control group. Results: The normal allele AA and, the variant alleles AB and BB gene frequencies were determined within the APSGN group as 74.5%, 20% and, 5.5%, respectively. No statistically significant difference was found with concerning to the gene polymorphism in the APSGN group when compared with the control group (p>0.05). No correlation was found in the patient group between gene polymorphism and the presence of hematuria, edema, central nervous system findings, and blood pressure (p>0.05). Concerning laboratory findings during the diagnosis, no correlation existed between the gene polymorphism and high levels of urea, creatine, total cholesterol, and triglycerides, low levels of albumin, and the presence of proteinuria (p>0.05). Within the first years following the diagnosis, no statistically significant difference was found in the glomerular filtration rates, blood creatine levels, proteinuria levels, duration of microscopic hematuria and proteinuria between the patients with the gene polymorphism and those without the gene polymorphism (p>0.05) Conclusion: Our study determined that the MBL gene polymorphism was not important in the development, the laboratory and clinical findings, or the progression of the patients with APSGN

The metabolic etiology of urolithiasis in Turkish children

Pediatric urolithiasis is an endemic disease, especially in certain developing regions of the world, such as the Far East, and to a certain extent the Middle East and Turkey. The aim of the study is to determine the metabolic etiology and the prevalence of formation of urinary calculi in Turkish pediatric patients with urolithiasis. Seventy-two pediatric patients diagnosed as having urolithiasis were studied from 1999-2005 in Dr. Behcet Uz Child Disease and Surgery Education and Research Hospital Nephrology Department, Izmir, according to their presenting signs and clinical and laboratory findings. The other necessary tests were also applied to detect the etiology of the calculi formation. Of the 72 patients, 50 (69.4%) were male and 22 (30.6%) were female, with ages ranging from 2 to 168 months (mean age 72 +/- A 35.7 months), and the male-to-female ratio of patients was 2.3. Twenty-four (33%) of them were diagnosed as having metabolic urolithiasis, 21 (30%) anatomic, 19 (26%) infectious and 8 (11%) idiopathic. The age at which urolithiasis was first diagnosed was found to be low in the metabolic and anatomic etiology groups (P = 0.028). Thirteen patients (18%) with urolithiasis were known to have a family history of stone disease, and in all of them metabolic etiology was considered to be the reason (P < 0.001). In all of the groups, the localization of the stone was found to be the upper urinary system most of the time, and in 17 (24%) with bilateral multiple stones, the etiology was found to be metabolic (P < 0.001). All of the patients were followed up for 3-72 months (mean 29.2 +/- A 13.7 months), and four of them (5.5%) had recurrences. In order to prevent renal damage and recurrences in pediatric patients with urolithiasis in Turkey in whom the etiology is mostly metabolic, the illnesses must be investigated very cautiously, and their early diagnosis and treatment modalities must be considered

Low-Density Lipoprotein Apheresis by Membrane Differential Filtration (Cascade Filtration) via Arteriovenous Fistula Performed in Children With Familial Hypercholesterolemia

Membrane differential filtration (cascade filtration) is an apheresis technique by which atherogenic lipoproteins can be eliminated from plasma on the basis of particle size. In this study, we aim to discuss the efficacy of low-density lipoprotein (LDL) apheresis performed by providing alternative vascular routes in two siblings with familial hypercholesterolemia who did not respond to medical treatment and diet. Of the two siblings, one was nine years old and the other one was three-and-a-half years old. Of the total of 78 apheresis processes performed, 24 were done via a permanent subclavian catheter, 36 were done via a subsequently provided arteriovenous fistula, and 18 were done via an arteriovenous graft. We observed a mean reduction in the plasma levels of total cholesterol (61.6%), LDL cholesterol (65.5%), and high-density lipoprotein cholesterol (38.6%). We noted that cascade filtration apheresis was effective in decreasing the LDL cholesterol in plasma, and no serious complications were noted. The success of the apheresis program depends on well-functioning blood access. An arteriovenous fistula may be the best route for the long-term treatment of familial hypercholesterolemia, which requires complication-free apheresis treatments