Comparative analysis of hospitalizations among patients treated with hemodialysis and peritoneal dialysis in European pediatric nephrology centers: results from a prospective EPDWG/ESPN Dialysis Working Group study.

Background and hypothesis: Hospital admissions in pediatric dialysis patients need to be better studied, and most existing studies are retrospective and based on registry data. This study aimed to analyse and compare hospital admission rates, causes, length of stay (LOS), and outcomes in children treated with peritoneal dialysis (PD) and hemodialysis (HD). Methods: Data from 236 maintenance PD and 138 HD patients across 16 European dialysis centers were collected between 1 July 2017 and 30 June 2018. A total of 178 hospitalized patients (103 PD, 75 HD) were included for further analyses. Results: There were 465 hospitalization events (268 PD, 197 HD) with a rate of 0.39 admissions per 100 patient-days at risk (PDAR) and 2.4 hospital days per 100 PDAR. The admission rates were not significantly different between HD and PD patients. The most common causes of hospitalization were access-related infections (ARI) (17%), non-infectious complications of access (NIAC) (14%), and infections unrelated to access (12%). ARI was the leading cause in PD patients (24%), while NIAC was more common in HD patients (19%). PD patients had more ARIs, diagnostic procedures, and treatment adjustments (P < .05), while HD patients had more NIACs, infections unrelated to access, access placement procedures, and interventional/surgical procedures (P < .001). LOS was longer with acute admissions than non-acute admissions (P < .001). Overall LOS and LOS in the intensive care unit were similar between HD and PD patients. High serum uric acid and low albumin levels were significant predictors of longer LOS (P = .022 and P = .045, respectively). Young age, more significant height deficit, and older age at the start of dialysis were predictors of longer cumulative hospital days (P = .002, P = .001, and P = .031, respectively). Conclusion: Access-related complications are the main drivers of hospitalization in pediatric dialysis patients, and growth and nutrition parameters are significant predictors of more extended hospital stays.

Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is characterized by increased endogenous oxalate production and deposition as calcium oxalate crystals. The main manifestations are nephrocalcinosis/nephrolithiasis, causing impaired kidney function. We aimed to evaluate the clinical characteristics and overall outcomes of paediatric PH1 patients in Turkey. METHODS: This is a nationwide, multicentre, retrospective study evaluating all available paediatric PH1 patients from 15 different paediatric nephrology centres in Turkey. Detailed patient data was collected which included demographic, clinical and laboratory features. Patients were classified according to their age and characteristics at presentation: patients presenting in the first year of life with nephrocalcinosis/nephrolithiasis (infantile oxalosis, Group 1), cases with recurrent nephrolithiasis diagnosed during childhood (childhood-onset PH1, Group 2), and asymptomatic children diagnosed with family screening (Group 3). RESULTS: Forty-eight patients had a mutation consistent with PH1. The most common mutation was c.971_972delTG (25%). Infantile oxalosis patients had more advanced chronic kidney disease (CKD) or kidney failure necessitating dialysis (76.9% vs. 45.5%). These patients had much worse clinical course and mortality rates seemed to be higher (23.1% vs. 13.6%). Patients with fatal outcomes were the ones with significant comorbidities, especially with cardiovascular involvement. Patients in Group 3 were followed with better outcomes, with no kidney failure or mortality. CONCLUSION: PH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality.

Evaluation of the Claria sharesource system from the perspectives of patient/caregiver, physician, and nurse in children undergoing automated peritoneal dialysis.

BACKGROUND: Automated peritoneal dialysis (APD) is increasingly preferred worldwide. By using a software application (Homechoice with Claria sharesource system (CSS)) with a mod-M added to the APD device, details of the home dialysis treatment become visible for PD nurses and physicians, allowing for close supervision. We aimed to evaluate the perceptions of patients/caregivers, PD nurses, and physicians about the advantages and disadvantages of CSS. METHODS: Three different web-based questionnaires for patients/caregivers, nurses, and physicians were sent to 15 pediatric nephrology centers with more than 1 year of experience with CSS. RESULTS: Respective questionnaires were answered by 30 patients/caregivers, 22 pediatric nephrologists, and 15 PD nurses. Most of the nurses and physicians (87% and 73%) reported that CSS improved patient monitoring. A total of 73% of nurses suggested that CCS is not well known by physicians, while half of them reported reviewing CSS data for all patients every morning. Sixty-eight percent of physicians thought that CSS helps save time for both patients/caregivers and healthcare providers by reducing visits. However, only 20% of patients/caregivers reported reduced hospital visits. A total of 90% of patients/caregivers reported that being under constant monitoring made them feel safe, and 83% stated that the patient's sleep quality improved. CONCLUSIONS: A remote monitoring APD system, CSS, can be successfully applied with children for increased adherence to dialysis prescription by giving shared responsibility and may help increase the patient's quality of life. This platform is more commonly used by nurses than physicians. Its potential benefits should be evaluated in further well-designed clinical studies with larger patient groups. A higher resolution version of the Graphical abstract is available as Supplementary information.

Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.

OBJECTIVE: Bartter syndrome and Gitelman syndrome are rare inherited tubulopathies characterized by hypokalemic, hypochloremic metabolic alkalosis. This study aimed to clarify the frequency of the phenotypic and genotypic subgroups, clinical features, long-term management, and prognosis of children diagnosed with Bartter syndrome and Gitelman syndrome in this study. MATERIALS AND METHODS: Twenty-seven patients with Bartter syndrome and 6 patients with Gitelman syndrome, who were followed up between 2004 and 2020 in a single center, were included in the study. RESULTS: The median age of diagnosis was 4 months in patients with Bartter syndrome and 174 months in patients with Gitelman syndrome. At the last follow-up, a total of 12 Bartter syndrome patients had chronic kidney disease with a mean 7.79 ± 4.73 years of age; 5 (18.5%) of these patients had chronic kidney disease stage 2, 5 (18.5%) had chronic kidney disease stage 3, and 2 (7.4%) had chronic kidney disease stage 5. Of the 5 patients with Bartter syndrome with chronic kidney disease stage 2, 2 had CLCNKB and 1 had SLC12A1 gene mutation. Also, CLCNKB mutation was detected in 2 of 5 patients with Bartter syndrome with chronic kidney disease stage 3. Finally, 2 patients with Bartter syndrome with chronic kidney disease stage 5 had BSND mutation in one and CLCNKB mutation in the other. Estimated glomerular filtration rates of all patients with Gitelman syndrome were normal at the last follow-up. There was no statistically significant association of development of chronic kidney disease with genetic mutation, nephrocalcinosis, prematurity, and hypokalemia. CONCLUSION: Patients with Bartter syndrome and Gitelman syndrome may have a different clinical course due to the underlying genetic mutation. Bartter syndrome and Gitelman syndrome require lifelong treatment, and regular follow-up is important to prevent advanced-stage chronic kidney disease.

Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.

OBJECTIVES: Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosphatemia. Although the X-linked dominant HHR is the most common form, the genetic etiology of HHR is variable. Recently, developed next-generation sequencing techniques may provide opportunities for making HHR diagnosis in a timely and efficient way. METHODS: We investigated clinical and genetic features for 18 consecutive probands and their 17 affected family members with HHR. All patient's clinical and biochemical data were collected. We first analyzed a single gene with Next-generation sequencing if the patients have a strong clue for an individual gene. For the remaining cases, a Hypophosphatemic Rickets gene panel, including all known HHR genes by Next-generation sequencing, was employed. RESULTS: We were able to diagnosis all of the consecutive 35 patients in our tertiary care center. We detected nine novel and 10 previously described variants in PHEX (9; 50%), SLC34A3 (3; 17%), ENPP1 (3; 17%), SLC34A1 (1; 5%), CLCN5 (1; 5%), and DMP1 (1; 5%). CONCLUSIONS: To delineate the etiology of HHR cases in a cost and time-efficient manner, we propose single gene analysis by next-generation sequencing if findings of patients indicate a strong clue for an individual gene. If that analysis is negative or for all other cases, a Next-generation Sequence gene panel, which includes all known HHR genes, should be employed.

Retrospective Analysis of the Factors Affecting Growth Parameters in Turkish Children With Systemic Lupus Erythematosus.

OBJECTIVES: This study aims to investigate the growth parameters in Turkish children with systemic lupus erythematosus (SLE) and to compare these growth parameters according to the presence or absence of cyclophosphamide, rituximab treatment, cumulative corticosteroid dose, proliferative nephritis, and the last visit disease activity and damage index. PATIENTS AND METHODS: Medical data, growth parameters including z-scores for weight, height, and body mass index and parent-adjusted height z-scores of 45 juvenile SLE (jSLE) patients (5 males, 40 females; mean age 12.3±3.2 years; range 7.1 to 18 years) were retrospectively evaluated. Growth parameters were calculated by anthropometric references in Turkish children. The disease activity was assessed by the SLE Disease Activity Index 2000 (SLEDAI-2K). The disease outcome was measured by the Pediatric version of Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index. RESULTS: The median diagnostic delay was two months (range, 0-36 months). The median follow-up duration was 3.21 years (range, 0.63-9.48 years). Mean height z-score was significantly lower at last visit than at the time of diagnosis. The growth parameters did not differ according to age at disease onset, diagnostic delay, presence of proliferative nephritis, having cyclophosphamide and rituximab treatment and the last visit (SLEDAI-2K) scores. The median duration of corticosteroid treatment was 3.2 years (range, 0.6-9.4 years) and the median cumulative corticosteroid dosage was 13.9 g (range, 1.9-58 g) of methylprednisolone. The mean height z-score at last visit was significantly lower in those who received at least 10 g of cumulative dose of corticosteroid. The last visit mean parent-adjusted height z-scores did not differ significantly regarding the cumulative corticosteroid dose. CONCLUSION: The last visit height and parent-adjusted height z-scores of jSLE patients were significantly lower. The patients treated with at least 10 g of cumulative dose of corticosteroids had lower mean height z-score.

Clinical manifestations and outcomes of 420 children with Henoch Schönlein Purpura from a single referral center from Turkey: A three-year experience.

Objectives: Henoch Schönlein Purpura (HSP) is the most common systemic vasculitis in childhood. We aimed to evaluate the clinical features, seasonal variation, treatment outcomes and the possible predicting factors related to outcome among a large cohort of pediatric HSP patients.Methods: We conducted a medical record review study between July 2016 and January 2019 and evaluated the clinical manifestations and potential risk factors for severe gastrointestinal (GI) involvement, biopsy-proven nephritis and relapses.Results: The study included 420 HSP patients, of which the mean age at diagnosis was 7.68 ± 3.15 years. Clinical manifestations were arthralgia and/or arthritis (n = 244, 58.1%), abdominal pain (n = 235, 56%), subcutaneous edema (n = 163, 38.8%), and renal involvement (n = 125, 29.8%). Disease recurred for at least once, in 69 (16.4%) patients and colchicine treatment yielded a favorable response in 11 of 12 relapsing patients, who did not respond to ibuprofen or steroids. Frequencies of renal involvement and biopsy-proven nephritis were higher in patients with severe GI involvement. Besides, patients with biopsy-proven nephritis had higher rates of abdominal pain, intussusception, severe GI involvement, and systemic steroid administration.Conclusion: We speculate that renal involvement, biopsy-proven nephritis and severe GI involvement can be related to each other. Colchicine may be effective in patients with relapsing disease.

Isolated nocturnal and isolated daytime hypertension associate with altered cardiovascular morphology and function in children with chronic kidney disease: findings from the Cardiovascular Comorbidity in Children with Chronic Kidney Disease study.

INTRODUCTION: Prevalence of isolated nocturnal hypertension (INH) and isolated daytime hypertension (IDH) is around 10% in adults. Data in children, especially in chronic kidney disease (CKD), are lacking. The aim of this cross-sectional multicenter cohort study was to define the prevalence of INH and IDH and its association with cardiovascular morphology and function, that is, pulse wave velocity (PWV), carotid intima-media thickness (cIMT), or left ventricular mass index (LVMI) in children with CKD. METHODS: Ambulatory blood pressure (BP) monitoring profiles were analyzed in 456 children with CKD stages III-V participating in the Cardiovascular Comorbidity in Children with Chronic Kidney Disease Study (64.3% males, 71.3% congenital anomaly of the kidney and urinary tract, age 12.5 ±â€Š3.2 years, estimated glomerular filtration rate 29 ±â€Š12 ml/min per 1.73 m). Baseline PWV, cIMT, and LVMI were compared in normotension, INH, IDH, or sustained 24-h hypertension. RESULTS: Prevalence of sustained hypertension was 18.4%, of INH 13.4%, and of IDH 3.7%. PWV SDS (SD score) and cIMT SDS were significantly higher in sustained hypertension and INH, and PWV SDS was significantly higher in IDH, compared with normotension. LVMI was significantly increased in sustained hypertension, but not in INH or IDH. Determinants of INH were smallness for gestational age, older age, higher height SDS and parathyroid hormone, and shorter duration of CKD. In logistic regression analysis, day/night-time hypertension or ambulatory BP monitoring pattern (normal, INH, IDH, sustained hypertension) were independently associated with cardiovascular outcome measures: elevated night-time BP was associated with increased cIMT, PWV, and left ventricular hypertrophy; INH was associated with cIMT. CONCLUSION: INH is present in almost one out of seven children with predialysis CKD; INH and nocturnal hypertension in general are associated with alterations of arterial morphology and function.

Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent.

Atmis B, Kisla-Ekinci RM, Melek E, Bisgin A, Yilmaz M, Anarat A, Karabay-Bayazit A. Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent. Turk J Pediatr 2019; 61: 444-448. Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients occasionally have symptoms in childhood, while diagnosis is often in adulthood. It is inherited by an autosomal recessive manner through SLC12A3 gene mutations. Familial Mediterranean Fever (FMF) is the most common autoinflammatory disorder, inherited by an autosomal recessive manner and characterized by recurrent fever and pleuritis, peritonitis, and synovitis. Mutations in MEditerrenean FeVer (MEFV) gene, coding pyrin protein are responsible for FMF. Both MEFV and SCL12A3 genes were located on chromosome 16. A 9-year-old boy was admitted to our department because of recurrent abdominal pain, fever, joint pain and swelling since he was three years old. He was diagnosed as FMF and MEFV gene sequencing revealed homozygous M694V (c.2080A > G) mutation. At the age of 14 years, polyuria, polydipsia, hypokalemia and mild hypomagnesemia had occurred. Patient was successfully treated with oral supplementation of potassium and magnesium along with colchicine. Molecular genetic analysis including SCL12A3 gene sequencing revealed homozygote IVS4-16G > A (c.602-16G > A) intronic splicing site mutation.

Renal features of Bardet Biedl syndrome: A single center experience.

Atmis B, Karabay-Bayazit A, Melek E, Bisgin A, Anarat A. Renal features of Bardet Biedl syndrome: A single center experience. Turk J Pediatr 2019; 61: 186-192. Bardet Biedl syndrome (BBS), is a multisystemic disorder which is described as a ciliopathy. BBS is a rare autosomal recessive disorder and 21 different BBS genes have been defined to date. BBS is characterized with dysmorphic extremities, retinitis pigmentosa, obesity, hypogenitalism, intellectual disabilility and renal structural abnormalities. Renal symptoms in patients with BBS, are nonspecific and often undetected until end-stage renal disease. Here, we were reported 23 children with BBS (12 females, 11 males) with renal abnormalities from a single center and defined their features. Age at diagnosis were very variable (2 days-16 years). Median age at diagnosis was 84 months. Mean follow-up period was 42 months. All 23 children had urinary tract abnormalities on renal ultrasonography. These abnormalities were polycysts (34.8%), hyperechogenic kidneys (34.8%), fetal lobulation (21.7%), hypoplasia on at least one kidney (21.7%) and hydronephrosis in at least one kidney (17.4%). Vesicoureteral reflux and neurogenic bladder detected 11.1% and 22.2% of patients who recieved a voiding cystourethrogram, respectively. Proteinuria was found in 39 % of patients. Hypertension was defined in 21.7% of patients. Six of 23 children (26%) in our cohort had proven mutations in BBS genes. Five of them (83.3%) had homozygous mutations in BBS10 gene and one of them had homozygous mutation in BBS2 gene. All of 23 children had retinitis pigmentosa, twenty two of them (95.6%) had learning disabilities/cognitive impairment and seventeen of them (82.6%) had obesity. Renal involvement is now accepted as a cardinal feature and the most important factor causing mortality in BBS.

Peritoneal dialysis in neonates: six years of single center experience

Background/aim: Peritoneal dialysis (PD) is generally considered the practical dialysis modality for neonates in the treatment of acute kidney injury (AKI) and metabolic disturbances. The aim of this study was to evaluate the indications, complications, and outcomes of PD between January 2011 and December 2016. Materials and methods: This study included all 56 neonates that underwent PD over six years in our neonatal intensive care unit (NICU). A retrospective chart review was performed for all patients in our institution. Results: The incidence of PD was 1.32% (56/4230 patients) during this period. Mean birth weight of the patients was 2267.77 ± 1060.63 (540­5050) g. Thirty-four (60.7%) patients were premature. Fourteen patients (25%) were in the postoperative period of cardiac surgery due to congenital cardiac defects, fourteen patients (25%) were diagnosed with metabolic diseases, one patient had hypoxic ischemic encephalopathy, and another patient had severe pulmonary hypertension. Conclusion: In the acute setting of a neonatal intensive care unit, PD performed in a neonate provides a technically simple method of steady fluid, solute removal, and correction of electrolyte abnormalities. A trocar catheter appears safe even in premature babies, and closed three-way stopcock system seems to be reliable at the bedside in NICUs.

Successful Management of a Rare Cause of Hemolytic Uremic Syndrome With Eculizumab in a Child.

BACKGROUND: Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. It very rarely coexists with acute lymphoblastic leukemia (ALL) emerging before, simultaneously, or after the diagnosis has been made, and management of the patient may be difficult. CASE: We present the case of a 7-year-old boy who was diagnosed with HUS and initially managed by hemodialysis (HD). Thereafter, HUS progressed, and neurological findings developed. The patient was treated with eculizumab, agressive blood pressure control, and antiepileptic drugs. At the fifth month of follow-up, the patient was diagnosed with acute B-cell lymphoblastic leukemia with fever, bone pain, hepatosplenomegaly, and pancytopenia. After initiation of ALL treatment, he had no episodes of HUS, despite cessation of eculizumab. CONCLUSION: In conclusion, eculizumab may be a treatment of choice to prevent further systemic damage in recurrent HUS episodes of patients with borderline changes in the bone marrow until ALL is constantly diagnosed.

Effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease.

Background: We investigated the effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism, i.e. serum levels of fibroblast growth factor 23 (FGF23), Klotho, bone alkaline phosphatase (BAP) and sclerostin, in two cohorts with chronic kidney disease (CKD). Methods: In all, 80 vitamin D-deficient children were selected: 40 with mild to moderate CKD from the ERGO study, a randomized trial of ergocalciferol supplementation [estimated glomerular filtration rate (eGFR) 55 mL/min/1.73 m2], and 40 with advanced CKD from the observational Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study (eGFR 24 mL/min/1.73 m2). In each study, vitamin D supplementation was started in 20 children and 20 matched children not receiving vitamin D served as controls. Measures were taken at baseline and after a median period of 8 months. Age- and gender-related standard deviation scores (SDSs) were calculated. Results: Before vitamin D supplementation, children in the ERGO study had normal FGF23 (median 0.31 SDS) and BAP (-0.10 SDS) but decreased Klotho and sclerostin (-0.77 and -1.04 SDS, respectively), whereas 4C patients had increased FGF23 (3.87 SDS), BAP (0.78 SDS) and sclerostin (0.76 SDS) but normal Klotho (-0.27 SDS) levels. Vitamin D supplementation further increased FGF23 in 4C but not in ERGO patients. Serum Klotho and sclerostin normalized with vitamin D supplementation in ERGO but remained unchanged in 4C patients. BAP levels were unchanged in all patients. In the total cohort, significant effects of vitamin D supplementation were noted for Klotho at eGFR 40-70 mL/min/1.73 m2. Conclusions: Vitamin D supplementation normalized Klotho and sclerostin in children with mild to moderate CKD but further increased FGF23 in advanced CKD.

Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.

Seker-Yilmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazit A, Topaloglu AK, Ceylaner G, Önenli-Mungan N. Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. Turk J Pediatr 2017; 59: 434-441. Fanconi-Bickel syndrome (FBS) is a rare, autosomal recessive disorder of carbohydrate metabolism caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene. Prominent findings are failure to thrive, renal tubular acidosis, hypoglycemia and postprandial hyperglycemia even mimicking diabetes mellitus. Eight patients from 6 families with FBS were included in this study. c.482_483insC homozygous mutation was detected in six patients from four different families. Mutation analysis of SLC2A2 gene revealed two novel homozygous mutations; c.1069delGinsAATAA and c.575A > G. Standard oral glucose tolerance test with 1.75 g/kg oral glucose was performed in six of the patients who were older than 3-years of age. Impaired glucose tolerance was found in all patients as expected and two of them had overt diabetes. None of the antidiabetic medications were given to them in order to avoid significant hypoglycemia. Beside the conservative treatment, follow up with frequent oral glucose tolerance tests are planned. We report these cases of FBS, as GSD XI is rare, two novel mutations were detected and also to highlight the risk of diabetes mellitus; although there is not a consensus about the treatment.

Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.

We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and followed up after being diagnosed with cystinosis. Nine patients were identified with mutations of homozygous c.451A > G, 7 patients with homozygous c.681G > A, 6 patients with homozygous c.834_842del, 2 patients with homozygous c.18_21delGACT and 1 patient with compound heterozygous for c.451A > G/ c.1015G > A. The c.834_842del mutation identified in six patients from four families has not been previously identified. Progression to renal failure occurred earlier in the patients identified with the new mutation, despite treatment. Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course.

Crescentic glomerulonephritis in a child with Heiner syndrome.

Heiner syndrome is a food-induced pulmonary hypersensitivity disease that predominantly affects infants. Chronic respiratory symptoms with pulmonary infiltrates on radiography, positive milk precipitins and resolution of findings upon removal of cow's milk constitute the main features. Severe cases may present with pulmonary hemosiderosis. Few renal manifestations associated with this syndrome have been reported so far. Here we report the first case of Heiner syndrome complicated by crescentic glomerulonephritis after 5 years of follow-up.

Etiology and outcome of acute kidney injury in children.

The aim of this prospective, multicenter study was to define the etiology and clinical features of acute kidney injury (AKI) in a pediatric patient cohort and to determine prognostic factors. Pediatric-modified RIFLE (pRIFLE) criteria were used to classify AKI. The patient cohort comprised 472 pediatric patients (264 males, 208 females), of whom 32.6% were newborns (median age 3 days, range 1-24 days), and 67.4% were children aged >1 month (median 2.99 years, range 1 month-18 years). The most common medical conditions were prematurity (42.2%) and congenital heart disease (CHD, 11.7%) in newborns, and malignancy (12.9%) and CHD (12.3%) in children aged >1 month. Hypoxic/ischemic injury and sepsis were the leading causes of AKI in both age groups. Dialysis was performed in 30.3% of newborns and 33.6% of children aged >1 month. Mortality was higher in the newborns (42.6 vs. 27.9%; p < 0.005). Stepwise multiple regression analysis revealed the major independent risk factors to be mechanical ventilation [relative risk (RR) 17.31, 95% confidence interval (95% CI) 4.88-61.42], hypervolemia (RR 12.90, 95% CI 1.97-84.37), CHD (RR 9.85, 95% CI 2.08-46.60), and metabolic acidosis (RR 7.64, 95% CI 2.90-20.15) in newborns and mechanical ventilation (RR 8.73, 95% CI 3.95-19.29), hypoxia (RR 5.35, 95% CI 2.26-12.67), and intrinsic AKI (RR 4.91, 95% CI 2.04-11.78) in children aged >1 month.

Symptomatic kidney involvement in a child with tuberous sclerosis.

Tuberous sclerosis complex is an autosomal dominant disorder of cellular proliferation and differentiation with variable penetrance and a high spontaneous mutation rate that affects multiple organs, including the kidney. Kidney involvement is commonly asymptomatic and bilateral, and rare in childhood, especially under 10 years. Herein, we report a case of unilateral renal angiomyolipoma in a nine-year-old girl with tuberous sclerosis who had symptoms of pain and macroscopic hematuria.

Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report.

We report a child with diabetes insipidus and hypodipsia associated with holoprosencephaly. A two-year-old girl with the history of several admittances to hospital during and after the newborn period with hypernatremic dehydration, acute renal failure and convulsions is presented. The patient had hypodipsia, hypernatremia, microcephaly, failure to thrive, and unilateral cleft lip and palate. Magnetic resonance imaging revealed lobar type holoprosencephaly. Increased plasma osmolality and decreased urinary osmolality were detected. Her urine ADH level was 10 ng/day. Plasma osmolality levels returned to normal after hydration and administration of a vasopressin analogue. These findings suggest that in children with hypernatremia-hypodipsia syndrome, the possibility of cerebral malformations should always be kept in mind.