Is there a relationship between hyperchloremia status and the risk of developing acute kidney injury in pediatric patients with diabetic ketoacidosis?

Diabetic ketoacidosis (DKA) is a life-threatening complication of type 1 diabetes mellitus (T1DM). Prerenal acute kidney injury (AKI) is associated with profound hypovolemia and reduced renal perfusion. Results regarding hyperchloremia-associated AKI in patients with DKA are conflicting; we therefore investigated the potential relationship between hyperchloremia status and the risk of developing AKI.

Investigation of the prevalence of cardiovascular risk factors in obese patients diagnosed with metabolic syndrome in childhood and examination of left ventricular function by echocardiography.

Objectives: The objective of this study is to investigate the cardiovascular risk factors associated with metabolic syndrome (MetS), which is increasingly becoming prevalent in childhood obesity.

Methods: A total of 113 patients, 76 of whom were between the ages of 10 and 17 (mean age: 14.5 ± 1.

Nationwide Turkish Cohort Study of Hypophosphatemic Rickets.

Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options.

Methods: Here we present nationwide initial and follow-up data on HR.

A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the Gene.

Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear. MIRAGE syndrome is a recently recognized congenital disorder characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy.

Catecholamine-induced Myocarditis in a Child with Pheochromocytoma.

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors. The clinical presentation of pediatric PPGLs is highly variable. In cases with pheochromocytoma (PCC), excess catecholamine may stimulate myocytes and cause structural changes, leading to life-threatening complications ranging from stress cardiomyopathy (CM) to dilated CM.

Comparison of Treatment Regimens in Management of Severe Hypercalcemia Due to Vitamin D Intoxication in Children.

Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results.

Methods: A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level >10.

Enzyme Replacement Therapy in Hypophosphatasia.

Hypophosphatasia (HPP) is associated with significant morbidity and mortality in pediatric patients. The disease also imposes a high disease-burden in adult-onset HPP. Asfotase alfa (AA) is the first-in-class, bone-targeted, enzyme- replacement therapy designated to reverse the skeletal mineralisation defects in HPP.

Apparent cyclic vaginal bleeding in a child: factitious disorder.

A 20-mo-old girl was brought to our department by her mother because of breast enlargement. She was diagnosed with premature thelarche. One month later, she returned to our hospital with a complaint of vaginal bleeding.

Evaluation of therapeutics management patterns and glycemic control of pediatric type 1 diabetes mellitus patients in Turkey: A nationwide cross-sectional study.

Aims: To evaluate the management strategies, glycemic control and complications of pediatric type 1 diabetes mellitus (T1DM) patients in Turkey.

Methods: Study included 498 patients with T1DM between the ages 1-18. Data provided from patients' hospital files were recorded on standard case report forms by applicant clinicians within the 3months of data collection period between October 2012 and July 2013.

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.

Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the underlying pathology.

Kidney injury molecule-1 and neutrophil gelatinase associated lipocalin in normoalbuminuric diabetic children.

Background: We aimed at evaluating the urinary levels of kidney injury molecule-1 ( KIM-1) and neutrophil gelatinase associated lipocalin (NGAL), and the relationship between these markers and clinical and laboratory variables in normoalbuminuric children with type 1 diabetes (T1D).

Methods: The study group consisted of 60 (F/M: 28/32) children with T1D with a median age of 13 (min: 7.1-max: 17.

Diabetes care, glycemic control, complications, and concomitant autoimmune diseases in children with type 1 diabetes in Turkey: a multicenter study.

Objective: Epidemiologic and clinical features of type 1 diabetes mellitus (T1DM) may show substantial differences among countries. The primary goal in the management of T1DM is to prevent micro- and macrovascular complications by achieving good glycemic control. The present study aimed to assess metabolic control, presence of concomitant autoimmune diseases, and of acute and long-term complications in patients diagnosed with T1DM during childhood and adolescence.

Etiological classification and clinical assessment of children and adolescents with disorders of sex development.

Objective: In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published a consensus statement on management of intersex disorders. The aim of our study was to determine the etiological distribution of disorders of sex development (DSD) according to the new DSD classification system and to evaluate the clinical features of DSDs in our patient cohort.

Methods: We retrospectively reviewed the records of patients followed up during the past three years.

Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?

Pendred syndrome (PDS) is an autosomal recessive disorder characterized by congenital deafness, goiter and iodide organification defect. Presence of inner ear malformations is essential for the clinical diagnosis. Most individuals with PDS are clinically and biochemically euthyroid.

Adverse effect of phenytoin on glucocorticoid replacement in a child with adrenal insufficiency.

Chronic administration of antiepileptic agents such as phenytoin can increase clearance rates of cortisol and synthetic glucocorticoids through hepatic microsomal enzyme induction. However, data concerning an adverse interaction between antiepileptic and steroid drugs are scarce. We herein report an adolescent boy with primary adrenal insufficiency that developed glucocorticoid deficiency after added phenytoin treatment.