| Abstract | Hipofosfatemični rahitis je metabolička bolest kostiju koja najčešće nastaje zbog povećanog gubitka fosfata bubrezima. X-vezani dominantni hipofosfatemični rahitis je najzastupljeniji nasljedni oblik hipofosfatemičnog rahitisa, a uzrokovan je mutacijama gena PHEX.
Cilj ovog diplomskog rada bio je opis osobitosti pacijenata s hipofosfatemičnim rahitisom liječenih u Zavodu za metabolizam Klinike za pedijatriju KBC-a Zagreb. Ova retrospektivna studija uključila je 11 ispitanika s postavljenom dijagnozom u razdoblju od 1994. do 2021. Kao izvori podataka pregledani su bolnička arhiva, bolnički informacijski sustav i ambulantni kartoni. Dijagnoza je postavljana na temelju pozitivne obiteljske anamneze, kliničke slike, biokemijskih i radioloških nalaza, a u većine bolesnika je potvrđena analizom gena PHEX. Medijan dobi pri postavljanju dijagnoze bio je jedna godina i 11 mjeseci. Pozitivnu obiteljsku anamnezu imalo je 36 % pacijenata. Najzastupljeniji klinički znakovi rahitisa bili su deformiteti kostiju, a biokemijski hipofosfatemija uz nisku maksimalnu tubularnu reapsorpciju fosfata i visok FGF23. Kod 7 od 8 pacijenata u kojih je učinjena genska analiza utvrđene su mutacije u genu PHEX, a dvije do sada nisu bile opisane u literaturi. Pacijenti su liječeni fosfatnim prašcima i aktivnim oblikom vitamina D. Kao posljedica liječenja, kod jedne pacijentice se razvio bubrežni kamenac, a kod 54,5 % bio je povišen PTH. Kirurški zahvat liječenja deformiteta nogu obavljen je kod 64 % pacijenata. Unatoč liječenju, nizak rast i deformitet nogu zaostali su kod približno 70 % pacijenata. Od drugih komplikacija pacijenti su imali dentalne komplikacije, lordozu i bol, ali manje učestalo nego što se opisuje u literaturi. Rezultati ove studije potvrđuju da je za bolji ishod vrlo važna rana dijagnoza i pravovremeni početak liječenja. Konvencionalna terapija ima pozitivan učinak, ali smanjen rast i deformiteti nogu zaostaju kod većine pacijenata. |
| Abstract (english) | Hypophosphatemic rickets is a metabolic bone disease, the defect usually results from increased renal excretion of phosphate. X-linked dominant hypophosphatemic rickets is the most common genetic form of hypophosphatemic rickets, caused by mutations in PHEX gene.
The aim of this study was to describe characteristics of patients with hypophosphatemic rickets, who were treated in Division for Metabolic Diseases, Department of Pediatrics, University Hospital Center Zagreb. This retrospective study included 11 patients diagnosed with hypophosphatemic rickets between 1994 and 2021. Hospital records, hospital computer database and ambulance records were reviewed as sources of data. Diagnosis was made based on positive family history, clinical presentation, radiographic features, biochemical tests, and in most patients was confirmed by PHEX gene analysis. Median age at diagnosis was one year and 11 months. 36% of patients had positive family history. The most common clinical and biochemical findings of rickets were skeletal deformities, hypophosphatemia, decresed tubular reapsorption of phosphate, and increased FGF23 level. In seven out of eight tested patients, genetic analysis had identified PHEX gene mutations, two of them were novel. All patients were treated with oral inorganic phosphate salts and activated vitamin D. As a consequence of the treatment, nephrolitiasis was identified in one patient, and high level of PTH in 54,5% of patients. 64% of patients required lower limb surgery. Despite treatment adherence, short height and skeletal deformities were present in nearly 70% of patients at the last physical exam. Other chronic complications were dental problems, lordosis, and pain, but those were less freqent in our cohort than it would be expected according to the literature. The results of this study confirm that early diagnosis and treatment are required for better outcome. Coventional treatment has a positive effect, but short stature and leg deformity are present in many patients despite the therapy. |
