Erkan Sari

Oral-ibuprofen-induced acute renal failure in a preterm infant.

The side effects of indomethacin for ductal closure in preterm neonates (e.g. increased incidence of necrotizing enterocolitis, decreased cerebral blood volume and transient renal failure) have led clinicians to seek a safer alternative. Intravenous indomethacin and ibuprofen appear to be equally effective for patent ductus arteriosus closure, but oral ibuprofen remains an experimental option with theoretical advantages yet with potential side effects. We herein report a case of transient but severe acute renal failure developing in a preterm infant in whom oral ibuprofen was used and discuss the safety of this drug in relation to its pharmacokinetics.

Evaluation of the current disease severity scores in paediatric FMF: is it necessary to develop a new one?

OBJECTIVES Modified adult disease severity scoring systems are being used for childhood FMF. We aim to test the clinical consistency of two common severity scoring systems and to evaluate the correlation of scores with the type of FMF mutations in paediatric FMF patients since certain mutations are prone to severe disease. METHODS Two hundred and fifty-eight children with FMF were cross-sectionally studied. Assessment of the disease severity was performed by using the modified scoring systems of Mor et al. and Pras et al. Genetic analysis was performed using PCR and restriction endonuclease digestion methods for the presence of 15 FMF gene mutations. FMF mutations were grouped into three based on well-known genotypic-phenotypic associations. Correlation between the mutation groups and the severity scoring systems was assessed. The consistency of the severity scoring systems was evaluated. RESULTS The results of two scoring systems were not statistically consistent with each other (κ = 0.171). This inconsistency persisted even in a more homogeneous subgroup of patients with only homozygote mutations of M694V, M680I and M694I (κ = 0.125). There was no correlation between the mutation groups and either of the scoring systems (P = 0.002, r = 0,196 for scoring systems of Mor et al.; P = 0.009, r = 0.162 for Pras et al.). CONCLUSIONS The inconsistency of the two scoring systems and lack of correlation between the scoring systems and mutation groups raises concerns about the reliability of these scoring systems in children. There is a need to develop a scoring system in children based on a prospective registry.

Hashimoto's Thyroiditis in Children and Adolescents

Hashimoto’s thyroiditis (HT) is an autoimmune disease with genetic background. It is also named as autoimmune thyroiditis or chronic lymphocytic tiroiditis. Hashimotos thyroiditis is the most common cause of thyroid diseases in children and adolescents and it is also the most common cause of acquired hypothyroidism with or without goiter. Hashimoto’s thyroiditis was first described in 1912 by Hakura Hashimoto in a series of patients with diffusely enlarged, firm thyroid glands with distinct pathologic features, classified as chronic lymphocytic thyroiditis (1). The characteristic histologic features include diffuse lymphocytic infiltration, atrophic follicles, well-developed germinal centers, and fibrosis. Hashimotos thyroiditis is the most important cause of hypothyroidism in children and adolescents. In an American population with age between 11 and 18 years, five new cases were detected out of 1,000 adolescents screened every year. It is more common among girls, varying from 4:1 to 8:1 depending on the geographical region. Although the disease can be seen before three years of age, it is usually seen after six years of age and its peak ages are 10 and 11 years (2). The prevelance of Hashimotos thyroiditis between 6-18 years old is 3% in Japan. Thirty40% of the cases have familial history of thyroid disease. It occurs far more often in women than in men (between 10:1 and 20:1), and is most prevalent between 45 and 65 years old. Autoimmune thyroid disease (AITD) has two clinical forms: a goitrous form more common in young age groups, in whom goiter may be the only clinical expression (3), often referred to as classical Hashimotos disease, and an atrophic one often called atrophic thyroiditis (4). Both are characterized by circulating thyroid autoantibodies and varying degrees of thyroid dysfunction, differing only by the presence or absence of goiter. The prognosis is not known very well, and studies reporting about long-term outcome of the disease are scarce (3,5). Thyroid function tests show variations at the time of diagnosis; mostly euthyroid or hypothyroid and rarely hyperthyroid. Hypothyroidism is thought to be a permanent sequelae of HT. Patients with overt hypothyroidism may have been recommended lifelong levothyroxine (LT4) therapy but it should be checked after puberty if LT4 therapy is still necessary or not.

Congenital Absence of Salivary and Lacrimal Glands Accompanied by Growth and Development Retardation

Congenital absence or hypoplasia of some or all major salivary or lacrimal glands, nasolacrimal ducts, and puncta is a rare autosomal dominant disorder. Phenotypical expression may show great variability, and the diagnosis may be difficult. Only a few cases have been reported in the literature. This report describes a patient who has all of the essential features suggestive of aplasia of the lacrimal and salivary glands, as well as retardation of growth and development. Although the characteristic features of aplasia of the lacrimal and salivary glands have been described, an association with development and growth retardation has not been reported in the literature.