Mesíha Ekím

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OBJECTIVE To investigate the prevalence of MEFV gene mutations in Turkish patients with Henoch-Schönlein purpura (HSP) but with no symptoms of familial Mediterranean fever (FMF). In addition, we assessed the clinical and laboratory characteristics of HSP patients with and without MEFV mutations. METHODS Eighty pediatric patients with HSP (44 boys and 36(More)
Childhood renal osteodystrophy (ROD) is the consequence of disturbances of the calcium-regulating hormones vitamin D and parathyroid hormone (PTH) as well as of the somatotroph hormone axis associated with local modulation of bone and growth cartilage function. The resulting growth retardation and the potentially rapid onset of ROD in children are different(More)
OBJECTIVE To retrospectively evaluate the clinical features, angiographic findings, and outcomes of children with Takayasu arteritis (TA) in Turkey. METHODS Clinical, laboratory, and angiographic findings and outcomes of 19 children with TA were evaluated with a retrospective chart review. The criteria for inclusion were those proposed by the American(More)
A 22-month-old girl with nephrotic syndrome and microcephaly is described. The had dismorphic facies and psychomotor retardation. Her parents were first-degree relatives and one of her siblings had died with nephrotic syndrome and renal failure in infancy. An autosomal recessive inheritance is suggested. The diagnosis of this rare combination is discussed(More)
DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular(More)
Henoch-Schönlein purpura (HSP) is the most common systemic vasculitis of childhood, affecting the small blood vessels. The disease is a clinical syndrome characterized by multiple organ involvement including the skin, joints, gastrointestinal tract, and the kidneys. Headache and behavioral changes can be frequently seen during the course of the disease, but(More)
Mutations in the Na+-HCO3- co-transporter (NBC1) cause permanent proximal renal tubular acidosis (pRTA) with ocular abnormalities. However, little has been known about the relationship between the degree of NBC1 inactivation and the severity of pRTA. This study identified three new homozygous mutations (T485S, A799V, and R881C) in the common coding regions(More)
BACKGROUND The proportion of gram-negative causative organisms in peritoneal dialysis-associated peritonitis is increasing. Little published information for this complication exists in children. The objective of this study is to evaluate the clinical presentation, early and late response to treatment, and identification of factors influencing the outcome of(More)
Encapsulating peritoneal sclerosis (EPS) is a serious complication of chronic peritoneal dialysis (CPD). In contrast to the adult population, there are few studies regarding EPS in paediatric CPD patients, and the majority of reported patients are from Japan. The aim of the present report is to define the incidence of EPS in our paediatric CPD patients and(More)
OBJECTIVES Several sets of criteria mainly for adults have been proposed for the diagnosis of FMF. The aim of the present study is to validate the most widely used diagnostic 'Tel Hashomer' criteria in children and to establish a new set of criteria for use in childhood. METHODS The study group consisted of 170 recently diagnosed FMF patients who had(More)