Medycyna wieku rozwojowego最新文献

{"title":"Long-term Follow Up of a Boy with Unilateral Autosomal Dominant Polycystic Kidney Disease and Contralateral Renal Agenesis","authors":"Grażyna Krzemień, A. Turczyn, M. Pańczyk-Tomaszewska, Aleksandra Jakimów-Kostrzewa, Agnieszka Szmigielska","doi":"10.34763/devperiodmed.20172104.380383","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.380383","url":null,"abstract":"Abstract In patients with autosomal dominant polycystic kidney disease (ADPKD) coexisting abnormalities of the urinary tract are considered rare. Only a few patients with ADPKD and congenital abnormalities of the kidney and urinary tract- renal agenesis, hypoplasia, aplasia, horseshoe kidney, ectopic multicystic dysplasic kidney, or subpelvic junction obstruction were reported. Renal agenesis occurs in approximately 1 in 1.500.000-3.000.000 patients with ADPKD. We report a boy with ADPKD and renal agenesis diagnosed at the age of 12 years. ADPKD was diagnosed in some other members of the family. Additionally to kidney changes, mitral valve prolapse was found on echocardiography. At the age of 18 years high normal blood pressure was recognized and laboratory tests demonstrated: serum creatinine 1.0 mg/dl, glomerular filtrate rate 97.9 ml/min/1.73m2, isotopic creatinine clearance (Tc-99mDTPA) 99 ml/min/1.73m2, normal urinalysis, no microalbuminuria. Conclusions In children with positive family history of ADPKD, screening ultrasonography of the kidney performed at the request of the family, allows the early diagnosis of sporadic present abnormalities of the kidney and urinary tract.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"21 1","pages":"380 - 383"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45852320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prediction of Severe Retinopathy of Prematurity Using the Winrop Algorithm in a Cohort from Malopolska. a Retrospective, Single-center Study","authors":"M. Jagła, Anna Peterko, K. Olesińska, Izabela Szymońska, P. Kwinta","doi":"10.34763/devperiodmed.20172104.336343","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.336343","url":null,"abstract":"Abstract Introduction Retinopathy of prematurity (ROP) is one of the leading avoidable causes of blindness in childhood in developed countries. Accurate diagnosis and treatment are essential for preventing the loss of vision. WINROP (https://www.winrop.com) is an online monitoring system which predicts the risk for ROP requiring treatment based on gestational age, birth weight, and body weight gain. Aim To validate diagnostic accuracy of the WINROP algorithm for the detection of severe ROP in a single centre cohort of Polish, high-risk preterm infant population. Material and methods Medical records of neonates born before 32 weeks of gestation admitted to the third level neonatal centre in a 2-year retrospective investigation 79 patients were included in the study: their gestational age, birth weight and body weight gain were set in the WINROP system. The algorithm evaluated the risk for ROP divided into low or high-risk of disease and identified infants with high risk of developing severe ROP (type 1 ROP). Results Out of 79 patients 37 received a high-risk alarm, of whom 22 developed severe ROP. Low-risk alarm was triggered in 42 infants; five of them developed type 1 ROP. The sensitivity of the WINROP was found to be 81.5% (95% CI 61.9-93.7), specificity 71.2% (95% CI 56.9-82.9), negative predictive value (NPV) 88.1% (95% CI 76.7-94.3), and positive predictive value (PPV) 59.5 (95% CI 48.1-69.9), respectively. The accuracy of the test significantly increased after combined WINROP and surfactant therapy as an additional factor - sensitivity 96.3% (95% CI 81.0-99.9), specificity 63.5% (95% CI 49.0-76.4), NPV 97.1% (95% CI 82.3-99.6), and PPV 57.8 (95% CI 48.7-66.4). Conclusions The WINROP algorithm sensitivity from the Polish cohort was not as high as that reported in developed countries. However, combined with additional factors (e.g. surfactant treatment) it can be useful for identifying the risk groups of sight-threatening ROP. The accuracy of the WINROP algorithm should be validated in a large multi-center prospective study in a Polish population of preterm infants.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"21 1","pages":"336 - 343"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41981763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Desmosis Coli − a Case Report and Review of The Literature","authors":"J. Desale, H. Shah, Vikrant Kumbhar, Gursev Sandlas","doi":"10.34763/devperiodmed.20172104.390392","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.390392","url":null,"abstract":"Abstract Desmosis coli is a rare pathology presenting as slow transit constipation. In this case we would like to discuss the presentation and management of desmosis coli. A 14-month-old female hailing from western India with a history of chronic constipation presented with acute massive abdominal distension and vomiting. At laparotomy, a hugely dilated transverse and sigmoid colon with a transition zone at the lower sigmoid was found. A transverse stoma was done after taking multiple seromuscular biopsies. The patient underwent re-exploration on day 14 because of the non-functioning of the stoma and a fixed bowel loop. The histopathology report was suggestive of normal ganglion cells. Unfortunately, the stoma continued not to function. A dye study showed dye in the colon after 24 hours ruling out any anatomical obstruction. Histopathology slides were reviewed multiple times and reported lack of connective tissue of the colonic wall leading to the diagnosis of desmosis coli. The patient was started on gradual feeds and pro-kinetics and over the next 2 weeks the stoma started functioning slowly. Desmosis coli is a rare cause of constipation which should be suspected in cases where aganglionosis has been ruled out and the constipation is refractory to conventional therapy.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"21 1","pages":"390 - 392"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46912419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nasilenie lęku i Objawów Zespołu Stresu Pourazowego u Matek a Rozwój Poznawczy Ich Przedwcześnie Urodzonych Dzieci","authors":"T. Walczak, Magdalena Chrzan-Dętkoś","doi":"10.34763/devperiodmed.20172104.393401","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.393401","url":null,"abstract":"Streszczenie Cel Poszukiwanie związku pomiędzy nasileniem lęku i objawów zespołu stresu pourazowego (PTSD) u matek a zimnymi i gorącymi funkcjami wykonawczymi ich urodzonych przedwcześnie dzieci. Materiał i metody Badaniami objęto 20 matek oraz ich dzieci urodzone przed 32. tygodniem ciąży. Nasilenie lęku u matek zmierzono za pomocą Inwentarza stanu i cechy lęku (STAI), natomiast nasilenie objawów PTSD za pomocą Zrewidowanej skali wpływu zdarzeń (IES-R). Do pomiaru gorących i zimnych funkcji wykonawczych zastosowano zadania: Pencil tap, Balance beam, Toy sort, Toy wrap i Toy wait, które pochodzą z baterii Preschool Self-Regulation Assessment (PSRA). Wyniki Przeprowadzone badania pokazały, że prawie połowa badanych kobiet cierpi na, co najmniej umiarkowane, nasilenie objawów PTSD. Najsilniejsze objawy związane są z czynnikiem Intruzja. Wykazano również, że niższe wyniki dzieci w zakresie gorących funkcji wykonawczych są związane z wyższym lękiem, rozumianym jako cecha u matki, oraz z nasiloną Intruzją i Unikaniem oraz ogólnym wskaźnikiem PTSD. Wnioski 1. Wśród matek prawidłowo rozwijających się wcześniaków w wieku przedszkolnym aż 45% doświadczało nasilenia objawów PTSD w stopniu co najmniej umiarkowanym. 2. Nasilenie PTSD oraz lęku związane jest u matek z gorszym rozwojem gorących funkcji wykonawczych, związanych z umiejętnością odraczania gratyfikacji i hamowania zachowań u ich dzieci. 3. Przeprowadzone badanie zwraca uwagę na konieczność monitorowania stanu psychicznego rodziców wcześniaków.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"21 1","pages":"393 - 401"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47384649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cicha Strefa płuc − Zastosowanie Testu Wypłukiwania Azotu Metodą Wielokrotnych Oddechów (MBNW) W Diagnostyce Chorób Drobnych Dróg Oddechowych u Dzieci − Doniesienie Wstępne Na Podstawie Piśmiennictwa i Doświadczenia własnego","authors":"Katarzyna Walicka-Serzysko, Magdalena Poštek, Dorota Sands","doi":"10.34763/devperiodmed.20172104.369379","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.369379","url":null,"abstract":"Streszczenie Drobne drogi oddechowe są miejscem powstawania zmian patologicznych w przebiegu wielu chorób jak np. astma lub mukowiscydoza, często już we wczesnym ich stadium. Ta część dróg oddechowych jest jednak pomijana w konwencjonalnych badaniach czynnościowych układu oddechowego i z tego powodu często nazywana jest „cichą strefą płuc”. W niniejszej pracy przedstawiono podstawy teoretyczne testu wypłukiwania azotu metodą wielokrotnych oddechów (MBNW − ang. multi-breath nitrogen washout) w diagnostyce chorób drobnych dróg oddechowych. Omówiono zagadnienia techniczne związane z przygotowaniem pacjentów pediatrycznych do przeprowadzenia badania oraz przebieg wykonywania testu. Możliwości zastosowania klinicznego opisanej metody stanowią nadal przedmiot wielu badań oraz budzą nadzieje na wypełnienie luki w testach czynnościowych drobnych dróg oddechowych. Ze względu na zaangażowanie autorów w diagnostykę i leczenie chorych na mukowiscydozę w pracy opisano również doświadczenia własne dotyczące wykorzystania tego badania w tej grupie pacjentów. Obecnie metoda znajduje się w fazie intensywnie prowadzonych analiz związanych z wykryciem wczesnych stadiów choroby oskrzelowo-płucnej w przebiegu mukowiscydozy, kiedy jeszcze wyniki innych badań czynnościowych są prawidłowe lub niemożliwe do wykonanie z uwagi na wiek pacjenta. Korelacja z metodami obrazowymi (tomografia komputerowa klatki piersiowej) i nasileniem zmian strukturalnych może w przyszłości ograniczyć liczbę wykonywanych badań radiologicznych, a tym samym zmniejszyć narażanie pacjenta na promieniowanie jonizujące. Wprowadzenie testów oceniających funkcję płuc u niemowląt i dzieci przedszkolnych z mukowiscydozą i innymi chorobami drobnych dróg oddechowych może zmodyfikować postępowanie kliniczne i poprawić rokowanie.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"21 1","pages":"369 - 379"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43848931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The State of Immunity in Pregnancies Complicated By Intrauterine Infection of The Fetus","authors":"N. Shcherbina, L. Vygivska","doi":"10.34763/devperiodmed.20172104.384389","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.384389","url":null,"abstract":"Abstract Objectives To study the state of immunity in pregnancies associated with urogenital infection and complicated by intrauterine infection. Material and methods The comparative study involved the examination of 250 pregnant women with urogenital infection and ultrasonographic signs of intrauterine infection and their newborns in order to assess the state of cellular and humoral immunity components and nonspecific resistance. A direct prospective examination of pregnant women was carried out in the 2nd and 3rd trimesters of gestation. Depending on the outcome of each pregnancy on the basis of the follow-up of newborns, performed on the first day after birth, the patients were retrospectively divided into two groups. The study group included 93 (37.2%) pregnant women who developed intrauterine infection. The comparison group (n=157 (62.8%)) comprised pregnant-carriers of perinatally significant infection who gave birth to conditionally healthy children. The control group consisted of 50 healthy women with a physiological pregnancy. Results In the gestation period under investigation, the development of intrauterine infection in pregnant women with urogenital infections was found to be associated with a deficiency of T-helpers / inducers, an increase in thymus-dependent lymphocyte killer activity, a high content of IL- 1β, TNF-α in the systemic circulation, and a decrease in the level of IL- 10 secondary to the oppression of the effector link of phagocytic neutrophils of peripheral blood. Conclusions An increased concentration of systemic proinflammatory cytokines IL-1β, IL-6 and TNFα with a simultaneous decrease in the IL-10 content and suppression of the killing activity of peripheral blood phagocytes reflects the presence of an active inflammatory process in the mother-placenta-fetus system and can be one of the factors affecting the development of intrauterine infection in pregnancy, complicated by urogenital infection.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"39 1","pages":"384 - 389"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41250371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"One-phase Split-bolus CT Urography – a Novel Approach To Reduce Radiation Dose in Diagnostics of Congenital Anomalies of Kidneys and Urinary Tract in Children","authors":"Przemysław Bombiński, M. Brzewski, S. Warchoł, M. Gołębiowski","doi":"10.34763/devperiodmed.20172104.402407","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.402407","url":null,"abstract":"Abstract Background Low-dose CT Urography (LD-CTU) has become a standard procedure in urinary tract abnormalities in children, especially when MR Urography is not available. Standard one-phase CTU is performed in excretory phase. There is also a split-bolus technique, which combines two or even three phases during one scan and provides more clinical information without higher radiation exposure. It can be implemented for congenital anomalies of kidneys and urinary tract (CAKUT) in children, however, this application is not deeply discussed in scientific literature. Aim of this publication is to present the protocol and determine the role of LD-CTU in diagnostic imaging of CAKUT in children. Material and methods Close to 300 CTUs in children were performed as a standard of care during the last 6 years in our Department. Diagnostic accuracy in suspected CAKUT was analyzed, depending on applied protocol − standard excretory CTU, multiphase CTU and two different one-phase split-bolus CTU protocols. Results Visualization of the urinary tract was adequate in all study protocols. However, more clinically significant information was received in vascular-excretory protocol, including vascular and renal anatomy. Radiation exposure was similar or even lower than in other study protocols. Conclusions One-phase split-bolus CTU protocol is a novel approach in low-dose diagnostic imaging of CAKUT in children. Combination of vascular and excretory phases has been shown as very effective technique, especially in comprehensive anatomical assessment of the abnormality and qualification to surgical intervention.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"21 1","pages":"402 - 407"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43631334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intraventricular Hemorrhage in Premature Infants with Respiratory Distress Syndrome Treated with Surfactant: Incidence and Risk Factors in The Prospective Cohort Study","authors":"E. Helwich, M. Rutkowska, R. Bokiniec, E. Gulczyńska, Roman Hożejowski","doi":"10.34763/devperiodmed.20172104.328335","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.328335","url":null,"abstract":"Abstract Background Intraventricular hemorrhage (IVH) is a common pathology in preterm infants with extremely and very low birth weight. It is particularly often seen in newborns with Respiratory Distress Syndrome (RDS). Aim To assess the incidence of IVH in preterm newborns with RDS treated with surfactant, and to identify factors that might reduce the risk of IVH in this population. Material and methods This multicenter, prospective cohort study is part of the “Neo-pro” study project. The investigations were carried out in 936 newborns, including 652 survivors. We enrolled a consecutive sample of infants born before 32 weeks’ gestation. IVH was diagnosed with trans-fontanel ultrasonography, performed according to the approved standards and classified according to Papile’s grading system. Results Intraventricular hemorrhage was diagnosed in 462/936 infants (49.4%), and in 43.3% of the survivors. Grade 3 and 4 IVH occurred in 14.8% and 13.8% of the infants, respectively, and in 10.6% and 5.7% of the survivors. Lack of antenatal application in mothers of corticosteroids increased the incidence rate of severe IVH from 14.2% to 22.1% (p=0.0087). The risk of IVH was reduced with early (from the first day of life) initiation of caffeine citrate (OR: 0.63, 95% CI: 0.45-0.88), delivery by cesarean section (OR: 0.50, 95% CI: 0.36-0.69), and the risk of severe IVH - from treatment with antenatal corticosteroids (OR: 0.58, 95% CI: 0.39-0.87). The most significant factor which increased the risk of hemorrhage was invasive mechanical ventilation (OR: 2.90, 95% CI: 2.07-4.07). The risk was further increased if the duration of mechanical ventilation was greater than seven days (OR: 3.02, 95% CI: 2.21-4.12). Conclusions The incidence of IVH in newborns with RDS is significant and the risk of IVH is increased by mechanical ventilation. Antenatal exposure to corticosteroids and delivery by cesarean section have a protective effect, and the former also reduces the risk of the most severe manifestations of IVH. Caffeine citrate initiated from the first day of life is another protective strategy.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"21 1","pages":"328 - 335"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48310390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Placental Dysfunction As a Key Element in The Pathogenesis of Preeclampsia","authors":"H. Schneider","doi":"10.34763/devperiodmed.20172104.309316","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.309316","url":null,"abstract":"Abstract Placental pathology is associated with major pregnancy disorders and the concept of the Great Placental Syndromes encompasses disorders of placentation, such as preeclampsia with and without fetal growth restriction, preterm labor, preterm premature rupture of membranes, late spontaneous abortion, and placental abruption. Preeclampsia is divided between the early and late onset variety and placental dysfunction is a central feature in the pathogenesis of both. In the early onset type, syncytiotrophoblastic stress seems to be related to an inherent defect of the trophoblast. Vascular protection of early placental development is replaced by vascular dysfunction. In late onset preeclampsia, maternal factors, such as genotypic predisposition to endothelial disease, and an impairment of antioxidant defence with a limited capacity of the maternal clearing system to cope with the increasing charge of apoptotic cell debris, are at the center of pathogenesis. Syncytiotrophoblastic stress in late pregnancy has been related to molecular senescence and late onset preeclampsia may be viewed as an exaggeration of normal placental ageing.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"21 1","pages":"309 - 316"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42947707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Zmienność Tolerancji Fenyloalaniny u Chorych Na PKU w Ciąży Pojedynczej i Bliźniaczej - Obserwacje i Doświadczenia z Jednego ośrodka Diagnostyczno-leczniczego (doniesienie Wstępne)","authors":"Joanna Żółkowska, K. Hozyasz, M. Nowacka","doi":"10.34763/devperiodmed.20172104.344360","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172104.344360","url":null,"abstract":"Streszczenie Podłożem fenyloketonurii (PKU) jest dziedziczony autosomalnie recesywnie niedobór hydroksylazy fenyloalaniny, który powoduje nadmierne gromadzenie się fenyloalaniny (Phe) we krwi i mózgowiu. Ograniczenie podaży Phe w diecie ma na celu umożliwienie utrzymywania się stężenia tego aminokwasu we krwi w rekomendowanym przedziale 120-360 μmol/L. W praktyce klinicznej ocena tolerancji Phe opiera się na częstych oznaczeniach stężenia aminokwasu w powiązaniu z analizą jadłospisów. Nieleczona PKU u kobiety w wieku prokreacyjnym może prowadzić do rozwoju zespołu fenyloketonurii matczynej u potomstwa. Celem pracy była analiza wpływu ciąży wielopłodowej na tolerancję fenyloalaniny, wykorzystująca obserwacje ciąż pojedynczych i bliźniaczych u kobiet chorych na PKU stosujących dietę niskofenyloalaninową. Pacjenci i metody Retrospektywnie analizowano ciążę pojedynczą i bliźniaczą u 3 chorych na PKU, stosujących dietę niskofenyloalaninową. Wszystkie pacjentki były objęte opieką wyspecjalizowanego dietetyka oceniającego tolerancję Phe. Analizowano wiek ciążowy wprowadzenia diety, przyrost masy ciała w czasie ciąży, odsetek oznaczeń Phe poza zakresem referencyjnym oraz pomiary noworodków, z których żaden nie chorował na PKU. Wyniki Całkowity wzrost tolerancji Phe i jego wzorzec w ciążach pojedynczych i mnogich różnił się istotnie u każdej z pacjentek. W ciążach pojedynczych i mnogich tolerancja Phe wzrosła o 579%/468%, 674%/261% i 427%/236% u chorych z genotypem Q383X/R408W, EX3DEL/EX3DEL, R281L/R408W. W ostatnich 10 tygodniach ciąży wzrost tolerancji Phe sięgał odpowiednio 62%/149%, 33%/64% i 37%/40%. Stopień zwiększenia masy ciała ciężarnej oraz płodu nie umożliwiał przewidywania zmian tolerancji Phe. Wnioski Poznanie tolerancji Phe w ciąży pojedynczej u chorej na PKU nie było pomocne w prognozowaniu dopuszczalnej podaży tego aminokwasu w ciąży bliźniaczej. Niezbędne są dalsze badania nad metabolizmem Phe w ciąży w celu opracowania zaleceń ułatwiających kompleksową opiekę nad chorymi na PKU w wieku rozrodczym.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"21 1","pages":"344 - 360"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42872537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}