SURGICAL TREATMENT OF THYROID GLAND DISEASES IN CHILDHOOD – OUR RESULTS

Bolesti štitne žlijezde jedna su od najčešćih endokrinopatija u djece. Većina njih uspješno se liječi konzervativnom terapijom, no u određenim slučajevima potrebno je kirurško liječenje. Odluka o kirurškom liječenju rezultat je suradnje pedijatra endokrinologa i kirurga, ovisi o prirodi bolesti, a opseg kirurškog zahvata o patološkoanatomskim promjenama u žlijezdi. Prikazani su rezultati kirurškog liječenja 41 djeteta provedenog u Zavodu od 1991. do 2009. godine te današnja stajališta u kirurškom liječenju djece s različitim bolestima štitne žlijezde.Thyroid gland diseases are the most common endocrinopathies in children. Vast majority of these conditions are treated with medical therapy but in individualised cases surgery is indicated. Decision about surgical treatment is made in cooperation of pediatric endocrinologist and surgeon, treatment options depend on the nature of the disease while the extent of surgical procedure is determined by the pathological changes present in the gland. In this paper we represent the results of surgical treatment of 41 children at our department from 1991 to 2009 and current trends in surgical treatement of thyroid gland disease

Kirurško liječenje bolesti štitne žlijezde u dječjoj dobi - prikaz naših bolesnika [Surgical treatment of thyroid gland diseases in childhood - our results]

Thyroid gland diseases are the most common endocrinopathies in children. Vast majority of these conditions are treated with medical therapy but in individualised cases surgery is indicated. Decision about surgical treatment is made in cooperation of pediatric endocrinologist and surgeon, treatment options depend on the nature of the disease while the extent of surgical procedure is determined by the pathological changes present in the gland. In this paper we represent the results of surgical treatment of 41 children at our department from 1991 to 2009 and current trends in surgical treatement of thyroid gland diseases

LOW DOSES OF SULPHONYLURIA AS A SUCCESSFUL REPLACEMENT FOR INSULIN THERAPY IN A PATIENT WITH NEONATAL DIABETES DUE TO A MUTATION OF KCNJ11 GENE ENCODING KIR6.2

Neonatalni dijabetes javlja se u 1 na 300 000 do 400 000 novorođenčadi, a u manje od 50% od njih radi se o trajnom dijabetesu. Nedavno je dokazano da je najčešći uzrok trajnoga neonatalnog dijabetesa aktivirajuća mutacija KCNJ11-gena koji kodira Kir6.2-podjedinicu kalijeva kanala (KATP-kanal) čija je funkcija regulirana adenozin trifosfatom (ATP). Ovo je otkriće važno ne samo kao dokaz monogenske etiologije bolesti već je izmijenilo i način liječenja ovih bolesnika, s obzirom na to da se na mutirane KATP-kanale koji nisu osjetljivi na ATP zbog mutacije Kir6.2-podjedinice i dalje mogu vezati preparati sulfonilureje i potaknuti endogeno izlučivanje inzulina. Prikazujemo dječaka u kojeg su se simptomi dijabetesa javili u dobi od nepuna 3 mjeseca kada je uvedena inzulinska terapija, a u dobi od 4 godine i 7 mjeseci dokazano je da je njegova bolest uzrokovana aktivirajućom mutacijom R201H KCNJ11-gena koji kodira Kir6.2-podjedinicu KATP-kanala. Inzulinska terapija uspješno mu je zamijenjena vrlo niskim peroralnim dozama glibenklamida, dugodjelujućeg preparata sulfonilureje. Ova nova saznanja nameću potrebu da se u sve djece u koje se dijabetes javi prije šestog mjeseca života što ranije definira genski poremećaj, bez obzira na aktualnu životnu dob, a sve informacije o provođenju testiranja na mutacije KATP-kanala moguće je dobiti na internetskoj stranici www.diabetesgenes.org.Neonatal diabetes mellitus is a rare metabolic disorder with an estimated incidence of 1:300.000 to 400.000 newborns, and less than 50% of the neonates have permanent neonatal diabetes mellitus (PNDM). Recently, activating mutation in the KCNJ11 gene encoding Kir6.2 subunit of the adenosin triphosphate-sensitive potassium (KATP) channel has been described as the most frequent cause of PNDM. Under physiological circumstances KATP channel closure plays a central role in glucose-stimulated insulin secretion from pancreatic beta cells. Sulphonylurea drugs stimulate insulin secretion by binding to and closing KATP channels and thus bypassing beta cell metabolism stimulate the same chain of reactions as glucose. We describe a boy diagnosed with PNDM at the age of 3 months when insulin therapy was started, and at the age of 4.5 years KCNJ11 gene was sequenced and found that the boy carried a de novo activating R201H mutation. Insulin therapy was successfully switched to low doses of oral glibenclamide. Accordingly, it is important to emphasize that every person diagnosed with diabetes before six months of life, however old they actually are, should be tested for KATP mutations which is offered via the website www.diabetesgenes.org

Incidence of Type 1 Diabetes Mellitus in 0 to 14-yr-old Children in Croatia – 2004 to 2012 Study

BACKGROUND: The incidence of type 1 diabetes mellitus (T1DM) among children and adolescents increased during the last 50 yr. The T1DM incidence in Croatia was 8.87/100.000/yr over 1995-2003, with an annual increase of 9%, which placed Croatia among countries with moderate risk for T1DM. AIM: To investigate incidence rates and trends of T1DM from 2004 to 2012 in 0 to 14-yr-old Croatian children, and to compare the results with previous studies in Croatia and other European countries. METHODS: T1DM crude incidence rates are estimated for the entire group and three subgroups: 0-4, 5-9, and 10-14 yr. Standardized incidence is calculated using the method of direct standardization according to World Health Organization (WHO) standard world population. The incidence rates by gender, age groups, seasonality, and calendar year, and their interactions were analyzed using Poisson regression model. RESULTS: A total of 1066 cases were ascertained over 2004-2012. The standardized incidence was 17.23/100.000/yr (95% CI: 16.19-18.26), with no significant differences in incidence rates or trends between boys and girls. Statistically significant annual increase of 5.87% (p < 0.001) was found for the whole group, and for the subgroups 5-9 yr (6.82%; p < 0.001) and 10-14 yr (7.47%; p < 0.001). In the youngest subgroup (0-4 yr), annual increase was lower (2.43%; p = 0338) and not statistically significant. CONCLUSION: The incidence of childhood T1DM is increasing in Croatia, thus placing Croatia among countries with high risk for T1DM. The annual increment of 5.87% is considerably lower than 9.0% reported earlier, but still higher than the European average (3.9%). The increase in incidence ceased in youngest children