Purpose Retinal changes are poorly described in early treated phenylketonuria (ETPKU). We aimed to investigate possible visual functional and ocular microstructural changes in adult patients with ETPKU. Optical coherence tomography (OCT) and its angiography (OCTA) data from patients with PKU were compared to healthy controls. Methods In this prospective, monocentric, cross-sectional, case-control study 50 patients with ETPKU and 50 healthy subjects were evaluated with OCT and OCTA. Measurements were performed on right eyes. The following visual function parameters were studied: best corrected visual acuity (BCVA), spherical equivalent (SE), contrast sensitivity and near stereoacuity; microstructural parameters: retinal nerve fiber layer thickness (RNFLT), ganglion cell layer (GCC) thickness , focal loss of volume (FLV), global loss of volume (GLV), peripapillary, papillary vessel density (VD), ocular axial length (AL) and intraocular pressure (IOP). Results Among functional tests there were significant differences in contrast sensitivity at 1.5 ( p < 0.001), 6 ( p < 0.013), 12 (p < 0.001), 18 ( p < 0.003) cycles per degree, in near stereoacuity (Titmus Wirt circles, p < 0.001) and in best corrected visual acuity (BCVA, p < 0.001). A statistically significant, moderate positive linear correlation was observed between BCVA and average Phe levels over the last ten years (β = 0.49, p < 0.001). The average (p < 0.001), superior (p < 0.001) inferior GCC (p < 0.001), the FLV ( p < 0.003), GLV (p < 0.001) and the average RNFLT ( p < 0.004) values of the PKU group were significantly lower than the controls. The serum phenylalanine level (Phe) in the PKU group negatively correlated with inferior (−0.32, p < 0.007), superior (r = −0.26, p < 0.028) and average (−0.29 p < 0.014) RNFL and with AL (−0.32, p < 0.026). In AL we detected a significant difference ( p < 0.04) between the good and suboptimal dietary controlled group. There was no significant difference between the ETPKU and control group in the measured vessel density parameters and in IOP. Conclusions Our results suggest that functional and ocular microstructural defects are present in patients with PKU, and some of them may depend on dietary control. The mechanism is unclear, but the correlation indicates the importance of strict dietary control in terms of preservation of retinal functions.
Purpose Macular structure is poorly evaluated in early-treated phenylketonuria (ETPKU). To evaluate potential changes, we aimed to examine retinas of PKU patients using optical coherence tomography (OCT) with additional OCT angiography (OCTA) and compare the results to healthy controls. Methods A total of 100 adults were recruited in this monocentric, case-control study: 50 patients with ETPKU (mean age: 30.66 ± 8.00 years) and 50 healthy controls (mean age: 30.45 ± 7.18 years). Macular thickness, vessel density and flow area of the right eye was assessed with spectral domain OCT angiography SD-OCT(A). Macular microstructural data between the ETPKU and control group was compared. In the ETPKU group, the relationship between visual functional parameters (best corrected visual acuity [VA], spherical equivalent [SE], contrast sensitivity [CS] and near stereoacuity) and microstructural alterations was examined. The dependency of OCT(A) values on serum phenylalanine (Phe) level was analysed. Results There was significant average parafoveal and perifoveal total retinal layer thinning in ETPKU patients compared to healthy controls ( p < 0.016 and p < 0.001, respectively), while the foveal region remained unchanged in the ETPKU group. Whole macular and parafoveal superficial capillary plexus density was significantly decreased in ETPKU compared to controls ( p < 0.001). There were no significant differences in the foveal avascular zone, nonflow area, macular superficial and deep capillary plexus between the groups. The temporal parafoveal inner retinal layer thickness was found to negatively correlate with individual Phe levels ( r = −0.35, p = 0.042). There was no difference in vascular density and retinal thickness in the subgroup analysis of patients with good therapy adherence compared to patients on a relaxed diet. Conclusions Durable elevation in Phe levels are only partially associated with macular retinal structural changes. However, therapy adherence might not influence these ophthalmological complications.
A phenylketonuria 1975 óta az újszülöttkori tömegszűrés része. Mára már hazánkban is felnőtt egy olyan generáció, amely születésétől kezdve speciális diétát tart és orvosi tápszert fogyaszt. A szűrés és a korai terápia bevezetésének köszönhetően a phenylketonuriás gyerekek normális életvitellel bíró felnőtté válhatnak. Ennek köszönhetően a phenylketonuria többé már nem egy gyermekgyógyászati betegség. Ebből adódóan a felnőtt phenylketonuriások ellátása anyagcsere-specializációval bíró belgyógyászati centrumokban történik. Az élethosszig tartó speciális terápia, a phenylketonuria felnőttkori vonatkozásait most ismerjük meg. Az összefoglaló közlemény célja bemutatni a phenylketonuriával kapcsolatos újdonságokat, fókuszálva a felnőttkori vonatkozásokra. Hosszú évek után nemzetközi irány-elvek jelentek meg, új terápiás lehetőségek váltak elérhetővé és várhatóak a közeljövőben, új kihívásokkal kell szembenéznünk, mint a maternalis phenylketonuria, a dietoterápia hosszú távú kihatásai vagy a nem kezelt phenylketonuriás felnőttek szövődményei. Orv Hetil. 2017; 158(47): 1857-1863. Kulcsszavak: phenylketonuria, felnőtt, metabolikus kontroll Adult phenylketonuriaStarting from 1975 phenylketonuria is part of the newborn screening program in Hungary. Since then a generation, treated with special diet and medical foods right after neonatal diagnosis has reached adulthood. Thanks to early treatment initiation, children with phenylketonuria are able to lead life to the full. Consequently, phenylketonuria is no longer considered a pediatric disease. Follow up of adult patients with phenylketonuria is performed in internal medicine centers specialized in metabolic diseases. The outcome of the lifelong special treatment, and the particularities of phenylketonuria in adulthood are yet to be determined. The aim of our review is to present recent findings in phenylketonuria focusing mainly on the adult care. After long time the first international guidelines appeared, new therapies were put in use, and these current developments are expected to be implemented in daily practice in the near future. New challenges must be met such as maternal phenylketonuria, long term effects of dietotherapy and the sequelae of untreated phenylketonuria in adulthood. Rövidítések AAVV = (adeno-associated viral vector) adenoasszociált virális vektor; BH 4 = (tetrahydrobiopterin) tetrahydrobiopterin; BMD = (bone mineral density) csontsűrűség; ETPKU = (earlytreated phenylketonuria) korán kezelt phenylketonuria; GMP = (glycomacropeptide) glikomakropeptid; LNAA = (large neutral amino acids) nagy neutrális aminosavak; MRI = (magnetic resonance imaging) mágneses rezonanciás vizsgálat; PAH = (phenylalanine hydroxylase) fenilalanin-hidroxiláz; PAL = (phenylalanine ammonia-lyase) fenilalanin-ammónia-liáz; Phe = (phenylalanine) fenilalanin; PKU = (phenylketonuria) phenylketonuria; QOL = (quality of life) életminőség; Trp = (tryptophan) triptofán; TYH = (tyrosine hydroxylase) tirozinhidroxiláz; Tyr = (tyrosine) tirozin; WMA = (white matter abnormalities) fehérállo...
Bevezetés: Nemzetközi irodalmi adatokból ismert, hogy a phenylketonuriás páciensek csontsűrűsége csökkent az egészséges populációhoz képest, ennek hátterében számos tényező állhat. Magyarországon mindeddig nem történt átfogó felmérés a felnőtt betegek csontanyagcseréjéről. Célkitűzés: Vizsgálatunk célja volt felmérni a korán kezelt, hazai felnőtt phenylketonuriás betegek csontsűrűségének időbeli változását a metabolikus kontroll függvényében. Módszer: Monocentrikus kutatásunkban négyéves intervallumban ismételten mértük 59 felnőtt páciens csontsűrűsé-gét kettős energiájú röntgenabszorpciometria módszerével a combnyakon és a lumbalis csigolyán. A diétahűséget a vér átlagos fenilalanin-, tirozin-szintjei és ezek hányadosa alapján határoztuk meg, majd a fenil-alanin-szintek alapján két alcsoportot alakítottunk ki. Vizsgáltuk a csontsűrűség és az átlagos fenilalanin-tirozin közötti összefüggést, illetve összehasonlítottuk a két alcsoport kezdeti csontsűrűségét és változását. Eredmények: A medián fenilalanin-szint 614 (182-1222) μmol/l, a medián tirozinszint 49 (24-99) μmol/l, míg a fenilalanin/tirozin arány 16 (4,5-35) volt. A kronológiai korhoz képest alacsony csontsűrűség kilenc páciensnél fordult elő. Az átlagos csontsűrűség-változás a combnyakon +0,0380 (-0,1550-0,7800) g/cm 2 , a lumbalis csigolyán +0,0120 (-0,57300-0,3130) g/cm 2 volt. A vér aminosavszintjei, illetve a csontsűrűség változása között korreláció nem volt kimutatható. A diétát jól betartó és a lazább diétát tartó alcsoportok csontsűrűsége között különbséget nem találtunk. Következtetések: Magyarországon elsőként vizsgáltunk születésüktől kezelt, felnőtt phenylketonuriás betegeket csontsűrűség szempontjából. Eredményeinkből arra következtethetünk, hogy fiatal felnőtt korban, pár évre vonatkoztatva érdemi csontvesztés nem jelentkezik, és a metabolikus kontroll szignifikánsan nem befolyásolja a csontsűrűséget. Orv Hetil. 2017; 158(47): 1868-1872. Kulcsszavak: phenylketonuria, csont, csontsűrűség, felnőtt, diéta Bone metabolism in adults with phenylketonuria -Hungarian dataIntroduction: Patients with phenylketonuria have lower bone mineral density compared to healthy people, however, the ethiology of these alterations is not clear. Hungarian data were missing in this topic. Aim: The main aim of our study was to survey the correlation between metabolic control and change of bone mineral density in early treated Hungarian adult patients with phenylketonuria. Method: In this monocentric study bone mineral density of 59 adult PKU patients have been repeatedly measured in a 4-year interval using dual-energy X-ray absorptiometry. Two subgroups have been established based on average blood phenylalanine levels. The correlation between the change in bone mineral density and average phenylalanine, tyrosine concentrations have been determined while initial bone mineral density and change have also been examined in the subgroups. Results: Mean phenylalanine concentration was 614 (182-1222) micromol/L, whereas mean tyrosine concentration was 49 (24-99) micromol/L ...
<b><i>Introduction:</i></b> Patients with phenylketonuria (PKU) must follow a lifelong phenylalanine (Phe)-restricted diet with additional amino acid supplementations, and this may put them at risk for nutritional disturbances. However, the body composition and nutritional status of adult patients with PKU has only been partially explored. The current study aims to assess the body composition of adult patients with PKU using multifrequency bioimpedance analysis (MF-BIA) and to reveal potential correlations between therapy adherence and body composition. Additionally, we compared body composition of patients with healthy controls. <b><i>Methods:</i></b> Fifty adult patients with early-treated PKU (27 female and 23 male) and 40 healthy, age- and gender-matched controls were included in this single-center, cross-sectional study. MF-BIA was performed on all subjects. Additionally, we determined serum nutritional markers for all patients. In the PKU patient group, correlation analyses were performed between body composition parameters and therapy adherence. We compared body composition of patients with PKU and controls using BIA. <b><i>Results:</i></b> The proportion of overweight was 56% among all patients with PKU. Female patients with PKU had significantly higher body fat percentage compared with controls. In parallel with higher fat content, we observed lower muscle mass, protein, and mineral content among female patients with PKU compared to controls. Such findings were not observed in male patients. Female patients with PKU had decreased therapy adherence and had significantly lower prealbumin levels compared with males. There was no significant correlation observed between body composition parameters and therapy adherence over the last 10 years in the PKU patient group. <b><i>Conclusion:</i></b> Although female patients had less optimal therapy adherence over the last 10 years compared with male patients, our results suggest that this does not influence body composition fundamentally. Our results suggest that obesity is an important comorbidity in young adult patients with PKU, especially in females. We advocate that nutritional assessments and weight management should be additional objectives of PKU management to provide optimal care.
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