Title Primarni hipoparatireoidizam u djece
Title (english) Primary hypoparathyroidism in children
Author Marta Gunjević
Mentor Mario Ćuk (mentor)
Committee member Danko Milošević (predsjednik povjerenstva)
Committee member Marija Jelušić (član povjerenstva)
Committee member Mario Ćuk (član povjerenstva)
Granter University of Zagreb School of Medicine (Department of Pediatrics) Zagreb
Defense date and country 2018-07-13, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Clinical Medical Sciences Pediatrics
Abstract Primarni hipoparatireoidizam je rijetko stanje karakterizirano niskom koncentracijom cirkulirajućeg paratireoidnog hormona (PTH). PTH je glavni regulator serumske koncentracije kalcija. Podiže njegovu koncentraciju djelujući direktno na skeletni i mokraćni sustav te posredno na gastrointestinalni sustav. Posljedično se u hipoparatireoidizmu javljaju simptomi koji su uzrokovani hipokalcijemijom. Težina simptoma je jako varijabilna te ovisi o težini hipokalcijemije i brzini kojom se razvila.
... More Simptomi se mogu javiti u gotovo svakom organskom sustavu i neki od njih su tetanija, aritmije, katarakta i depresija. Uzrok primarnog hipoparatireoidizma su brojni genetski poremećaji. U djece se hipoparatireoidizam najčešće pojavljuje u sklopu DiGeorgeovog sindroma. Primarni se hipoparatireoidizam može javiti i u sklopu Barakat sindroma, Kenny-Caffey te Sanjad-Sakati sindroma. Hipoparatireoidizam može biti i izoliran te se tada naziva obiteljski izolirani hipoparatireoidizam. Taj oblik bolesti nastaje zbog defekata brojnih gena koji kodiraju transkripcijske faktore, receptore te signalne preptide. Osim toga, hipoparatireoidizam može biti jedna od manifestacija u sklopu brojnih nasljednih mitohondrijskih bolesti. Povrh toga, postoji i autoimuni nasljedni oblik primarnog hipoparatireoidizma. Primarni hipoparatireoidizam ima široku diferencijalnu dijagnozu jer se mnoga stanja prezentiraju hipokalcijemijom, pa prema tome imaju simptome poput hipoparatireoidizma. Među njima su pseudohipoparatireoidizam, hipomagnezijemija, hiperfosfatemija, hipovitaminoza D, sepsa te brojna druga stanja. Za postavljanje dijagnoze hipoparatireoidizma ključna je laboratorijska dijagnostika. Potrebno je odrediti serumsku koncentraciju ukupnog te ioniziranog kalcija, intaktnog PTH, albumina, fosfata, magnezija, kreatinina te 25-hidroksi vitamina D. Za konačno utvrđivanje genetskog defekta koji je doveo do primarnog hipoparatireoidizma potrebni su specijalni testovi. Konvencionalna terapija hipoparatireoidizma je oralna suplementacija kalcija ili aktivnog vitamina D ili kombinacija oboje u različitim dozama ovisno o kliničkoj procjeni. Primjenom konvencionalne terapije moguće je kontrolirati bolest kod većine pacijenata. Međutim, ovaj je oblik liječenja praćen brojnim komplikacijama kao što su bubrežni kamenci, nefrokalcinoza, kronična bubrežna bolest te ektopične kalcifikacije. Stoga se razmatra primjena sintetskih PTH peptida u liječenju hipoparatireoidizma u djece. Istraživanja su pokazala njihovu superiornost nad konvencionalnom terapijom zbog manje učestalosti nuspojava u usporedbi, poboljšanja mikrostrukture kosti te pojave znatno većih serumskih koncentracija kalcija i manje fluktuacija njegove koncentracije kroz dan u osoba koje su liječene PTH peptidima. Daljnje su studije potrebne za utvrđivanje dugoročne sigurnosti primjene PTH peptida u djece. Less
Abstract (english) Primary hypoparathyroidism is a rare condition characterized by low concentration of circulating parathyroid hormone (PTH). PTH is main regulator of serum calcium concentration. It increases calcium concentration acting directly on skeletal and urinary system and indirectly on gastrointestinal system. Consequently, the symptoms in hypoparathyroidism are result of hypocalcemia. The severity of symptoms varies greatly and it depends on the severity of hypocalcemia and its development rate.
... More The symptoms may occur in almost every organ system and some of them are tetany, arrhythmias, cataract and depression. The causes of primary hypoparathyroidism are genetic disorders. In children hypoparathyroidism mostly occurs within DiGeorge syndrome. Primary hypoparathyroidism can also occur within Barakt syndrome, Kenny-Caffey and Sanjad-Sakati syndrome. Hypoparathyroidism can also be isolated and it is called familial isolated hypoparathyroidism, which arises from defects of many genes that encode transcription factors, receptors and signal peptides. Additionally, hypoparathyroidism may be one of manifestations within numerous inherited mitochondrial diseases. Furthermore, there is autoimmune inherited form of primary hypoparathyroidism. Primary hypoparathyroidism has a wide differential diagnosis because many conditions present with hypocalcemia and therefore have symptoms like hypoparathyroidism. Among them are pseudohypoparathyroidism, hypomagnesemia, hyperphosphatemia, hypovitaminosis D, sepsis and many other conditions. Laboratory diagnostic is crucial in diagnosing hypoparathyroidism. It is required to measure serum concentrations of total and ionized calcium, intact PTH, albumin, phosphate, magnesium, creatinine and 25-hydroxi vitamin D. Special tests are required to determine genetic defect that caused primary hypoparathyroidism. Conventional therapy of hypoparathyroidism is oral supplementation of calcium or active form of vitamin D or combination of both in variable doses depending on clinical estimation. By using conventional therapy, the disease can be controlled in most patients. However, this form of treatment is accompanied by many complications, such as kidney stones, nephrocalcinosis, chronic kidney disease and ectopic calcifications. Therefore, the usage of synthetic PTH peptides in children is considered. Researches have shown superiority of PTH peptides over conventional therapy because of less side effects, improvement of bone microstructure, considerably higher serum calcium concentration and less daily fluctuation in its concentration in persons treated with PTH peptides. Further studies are needed to establish long term safety of therapy with PTH peptides in children. Less
Keywords
primarni hipoparatireoidizam
paratireoidni hormon
hipokalcijemija
konvencionalna terapija
sintetski PTH peptidi
Keywords (english)
primary hypoparathyroidism
parathyroid hormone
hypocalcemia
conventional therapy
synthetic PTH peptides
Language croatian
URN:NBN urn:nbn:hr:105:488020
Study programme Title: Medicine Study programme type: university Study level: integrated undergraduate and graduate Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Created on 2019-01-04 09:01:26