Life-threatening conditions in a child with Prader-Willi syndrome

Prader-Willi sindrom (PWS) vrlo je rijedak genetički poremećaj. Nastaje zbog nedostatka izražaja očevih gena u regiji 15q11.2-q13. Takav složeni genetički poremećaj remeti funkciju više organski sustava. PWS pogađa jednu osobu na 30 000 ljudi, bez obzira na spol, rasu ili etničku grupu. Lijek za ovaj sindrom još nije pronađen, ali postoji niz načina i lijekova koji mogu poboljšati kvalitetu života kod oboljelih. Sama klinička slika ove bolesti ima niz faza od kojih je prva sniženi tonus mišića već u novorođenačkoj dobi. Zbog toga dolazi do nemogućnosti pravilnog hranjenja i napredovanja te ubrzo nastupa hiperfagija. Upravo zbog prekomjerne debljine uz ovaj sindrom vežu se i mnogobrojne komplikacije. U vrijeme kada je PWS otkriven oboljelo dijete imalo je vrlo male šanse za preživljavanje jer tadašnja oprema i tehnika nije bila razvijena i napredna kao danas. Sada dijagnoza može biti postavljena već u prvome mjesecu života DNA analizom. Posljednjih godina u liječenje je uključen i hormon rasta jer je u većine djece dokazan njegov deficit. Pozitivan učinak terapije HR-om u bolesnika s PWS-om očituje se ubrzanjem rasta, boljom završnom visinom, povećanom količinom i tonusom mišićnog tkiva, većom mišićnom snagom te smanjenim udjelom masnog tkiva. Uz sve, važno je napomenuti niz stanja koja ugrožavaju život djetetu s ovim sindromom. Takva stanja, obrađena u ovom radu, poput prekomjerne debljine, centralne i opstruktivne apneje, hiponatremije, adrenalne krize, šećerne bolesti i hipertermije mogu biti jedan od razloga mnogobrojnih iznenadnih smrti djece oboljele od PWS-a. Od iznimne je važnosti da liječnici budu upoznati s ovim zdravstvenim stanjima koja dodatno ugrožavaju život djeci oboljeloj od PWS-a. Na taj način te uz ranu dijagnostiku i terapiju poboljšava se kvaliteta života i produljuje se životni vijek oboljelih te sprječavaju teške zdravstvene komplikacije.Prader-Willi syndrome (PWS) is a very rare genetic disorder. It is caused by the loss of function of parental genes in a particular region of chromosome 15q11.2-q13. Such a complex genetic condition affects function of many organic systems. Prader-Willi syndrome affects an estimated 1 in 30 000 people worldwide, regardless of their gender, race or ethnic background. Prader–Willi syndrome has no cure yet, but there are ways and medicines that can improve quality of life of persons with PWS. The clinical features of this disorder have a series of phases starting with weak muscle tone (hypotonia) in infancy. This results in feeding difficulties, poor growth, and delayed development, which soon leads to chronic overeating (hyperphagia). The obesity is the reason why this syndrome is related to many difficulties. At the time when PWS was discovered, a child with PWS had small or no chance for survival, since the equipment and technology was not as developed as they are nowadays. Today, the PWS diagnosis can be confirmed as early as in the first month of life using DNA testing (analysis). Lately, growth hormone therapy has been included in treatment of PWS, because the growth hormone deficiency was proved with the majority of children with PWS. One benefit of the growth hormone therapy is a faster growth, better end height, increased quantity and muscle tone, increased strength, and reduction of body fat. Additionally, it is important to pay attention to a number of life-threatening conditions in children with PWS. These conditions, described in this paper, such as obesity, central and obstructive sleep apnea, hyponatremia, adrenal crisis, diabetes, and hyperthermia can be one of the reasons for numerous sudden death cases in children with PWS. It is extremely important for physicians to be familiar with the conditions that additionally threaten the lives of children with PWS. In this way, and with early diagnosis and treatment, the quality of life of persons with PWS is improved, life expectancy is prolonged, and severe health complications are prevented