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Congenital nephrogenic diabetes insipidus is a hereditary and at birth manifested disease, which is characterized by complete or partial insensitivity of the kidney collecting duct to antidiuretic hormone and its analog deoksi-desamino argentine vasopressin. Patients are thus unable to concentrate urine. The disease is caused by a mutation in the gene encoding either the V2-receptor for antidiuretic hormone (AVPR2) or the water channel -aquaporine type 2 (AQP2). Most patients are phenotypicaly similar. Typical are polyuria and polydipsia. The disease is undoubtedly confirmed by defining a mutation in the patient's AVPR2 or AQP2 gene. Defining of the mutation enables better genetic counseling of the patient and his family, and swifter intervention in newborn siblings or patient's children. The basis of the therapy is maintaining the patient sufficiently hydrated. Medications (hydrochlorothiazide, amiloride, indomethacin) in monotherapy or in combination also have an important role in the therapy. The prognosis of the disease is good if the patient is sufficiently hydrated and periods of dehydration are avoided. If not, an acute episode of dehydration that is not correctly managed can result in death. Repeated periods of dehydration result in late complications of the disease such as mental retardation, mental concentration disturbances, dilatation of the urinary tract and calcinations of the brain. With the present knowledge about the disease there should be no more congenital nephrogenic diabetes insipidus patients with late sequels of the disease in our population. Kongenitalni nefrogeni diabetes insipidus je dedna in ob rojstvu izražena bolezen, za katero je značilna delna ali popolna neodzivnost zbiralc ledvic zaantidiuretični hormon in njegov analog deoksidezamino arginin vazopresin. Posledica je, da bolniki niso zmožni koncentrirati urina. Bolezen je posledicaokvare gena za V2-receptor za antidiuretični hormon (AVPR2) ali gena za vodne kanalčke - akvaporine tipa 2 (AQP2). Klinična slika je pri veliki večini bolnikov podobno izražena. Značilni sta predvsem poliurija in polidipsija. Dokončno potrdimo bolezen z opredelitvijo mutacije gena AVPR2 aliAQP2. Opredelitev mutacije nam omogoči boljše genetsko svetovanje pri bolniku in njegovi družini in hitrejše ukrepanje pri novorojenih sorojencih inpotomcih bolnikov. Osnova zdravljenja je zagotavljanje ustrezne hidracije bolnika. Pomembno vlogo pri bolnikih vseh starostnih skupin ima tudi zdravljenje z zdravili (hidroklorotiazidom, amiloridom, indometacinom) v monoterapiji ali v kombinaciji. Napoved bolezni je dobra, če vseskozi zagotovljamo bolniku zadostno hidracijo in se izognemo epizodam dehidracije. Vnasprotnem primeru je ob akutni epizodi hude dehidracije in ob neustreznem ukrepanju (predvsem pri najmlajših bolnikih) možen tudi smrten razplet, ob ponavljajočih se epizodah dehidracije pa pozni zapleti, kot so umska zaostalost, motnje pozornosti, razširitev votlega sistema sečil in kalcinacijev možganskem tkivu. Ob dandanašnjem znanju o bolezni in ob možnih načinih zdravljenja v naši populaciji ne bi smeli več zaslediti bolnikov s kongenitalnim nefrogenim diabetesom insipidusom s poznimi zapleti bolezni.

In the article, the authors present the case of a girl with multiple congenital malformations of the abdominal organs; one of them being duodenal obstruction and the other non-rotation of the intestine, with typical clinicalsymptoms and signs of duodenal obstruction and non-rotation. The importance of diagnostic imaging and co-operation between the pediatric gastroenterologist, radiologist and abdominal surgeon is emphasized. The authors caution that this condition can be associated with high mortality and morbidity rates when it is not recognized early and treated correctly. V prispevku avtorji prikazujejo primer deklice z več prirojenimi malformacijami trebušnih organov, med drugim tudi z obstrukcijo dvanajstnika zLaddovim tračkom in nonrotacijo črevesja, pri kateri sta bila klinična slika delne obstrukcije in nonrotacije črevesja ter potek bolezni značilni. Poudarjajo pomen, ki ga ima pri postavitvi diagnoze slikovna diagnostika in sodelovanje med pediatrom gastroenterologom, rentgenologom in abdominalnim kirurgom. Opozarjajo na to, da se bolezen ob neustreznem in nepravočasnem ukrepanju ob akutnem zapletu, volvulusu, lahko konča tudi smrtno ali pa s hudimi nepopravljivimi posledicami za otroka.

Asthma is a chronic inflammatory respiratory disease. Anti-inflammatory therapy with inhaled glucocorticosteroids is considered the most effective long-term therapy for moderate and severe forms of chronic asthma. Side effects constitute the only limitation of this therapy. The purpose of our study was to find out whet- her long-term administration of inhaled glucocorticosteroids for asthma has an imunosupresive side effect. We studied the frequency and severity of respiratory infections in asthmatic children treated with long-term inhaled glucocorticosteroids and in children with asthma receiving no such therapy. Our hypothesis was that long-term therapy with inhaled glucocorticosteroids for asthma has an imunosupressive side effect and that asthmatic children given long-term therapy with inhaled glucocorticosteroids suffer more frequent and more severe respiratory infections than children with asthma receiving no such medication. This one-year prospective study included 20 children with mild and moderate asthma,aged 7 years 0 months to 14 years 11 months (average 9 years, 4 months.There were 7 girls and 13 boys. The children were divided into two groups (n=10): one group receiving long-term therapy with inhaled glucocorticosteroids (fluticasone propionate) and another group given no such therapy. Because of moral, ethical and medical principles a non-random grouping of children was used in this study. (Abstract truncated at 2000 characters.) Izvleček. Astma je kronična vnetna bolezen dihal. Protivnetno zdravljenje z inhalacijskimi glukokortikosteroidi velja za najbolj učinkovito zdravljenje zmerne in hude kronične astme pri odraslih in otrocih. Edina omejitev za njihovo uporabo so stranski učinki. Z našo raziskavo smo poskusili ugotoviti, ali ima redno zdravljenje otrok z astmo z inhalacijskimi glukokortikosteroidi imunosupresivni stranski učinek. Ocenjevali smo pogostost in težo okužb dihal pri otrocih z astmo, ki se redno zdravijo z inhalacijskimi glukokortikosteroidi, v primerjavi z otroki z astmo, ki se z njimi ne zdravijo. Naša hipoteza je bila, da ima redno zdravljenje otrok z astmo z inhalacijskimi glukokortikosteroidi imunosupresivni stranski učinek. Otroci z astmo, ki se redno zdravijo z inhalacijskimi glukokortikosteroidi imajo pogostejše in težje okužbe dihal kot otroci z astmo, ki se z inhalacijskimi glukokortikosteroidi ne zdravijo redno. Raziskava je bila prospektivna in je trajala eno leto. V raziskavo je bilo vključenih 20 otrok z blago in zmerno astmo, starih od 7 let 0 mesecev do 14 let 11 mesecev (povprečna starost 9 let4 meseci), 7 deklic, 13 dečkov. Razporejeni so bili v dve skupini (n=10). Ena skupina je bila redno zdravljena z inhalacijskimi glukokortikosteroidi (flutikazon propionat), druga ne. Zaradi moralnih, etičnih in strokovnih načelpreiskovancev nismo mogli uvrstiti v skupine naključno. Otroci so, ob pomoči staršev, v dnevnik beležili simptome okužbe dihal in astme ter merili naj- večjo hitrost pretoka zraka pri izdihu in telesno temperaturo. (Izvleček prekinjen pri 2000 znakih.)

Introduction. Developmental delay and dysmorphic features affect 1 - 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice for clinical diagnostics of developmental delay and dysmorphic features. Methods and results. In the present article we describe the clinical advantages of molecular cytogenetic approach (comparative genomic hybridization arrays and single nucleotide polymorphism arrays) in the diagnostic procedure of two children with developmental delay, dysmorphic features and additional morphological phenotypes. Additionally, we demonstrate the necessity of fluorescent in situ hybridization utilisation to identify the localisation and underlying mechanism of detected chromosomal rearrangement. Conclusions. Two types of chromosomal abnormalities were identified and confirmed using different molecular genetic approaches. Comparative genomic hybridization arrays and single nucleotide polymorphism arrays are hereby presented as important methods to identify chromosomal imbalances in patients with developmental delay and dysmorphic features. We emphasize the importance of molecular genetic testing in patients’ parents for the demonstration of the origin and clinical importance of the aberrations prior determined in the patients. The results obtained using molecular cytogenetic high resolution techniques methods are the cornerstone for proper genetic counselling to the affected families.