Elżbieta Jakubowska-Pietkiewicz

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene

Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal movements in the second and third trimesters of pregnancy. Clinical examination revealed a myopathic face with a characteristic tent-shaped open mouth, tongue fibrillations, profound muscle weakness, areflexia, multiple contractures, mild skeletal abnormalities and cryptorchidism. In the first days of the patients life, fractures of the right femur and right humerus were found; however, calcium-phosphate metabolism and densitometric examination were normal. Molecular analysis revealed a de novo c.1731C>T substitution in the UBA1 gene, which was localized in exon 15, the specific hot spot for mutation.

Vitamin D receptor gene (BsmI and FokI) polymorphism and calcium-phoshporus indices in children from Lodz region

Introduction. Maintenance of calcium-phosphorus indices, including liver and renal metabolites of vitamin D, is regulated extensively hormonally and genetically. One of many possible genetic factors is vitamin D receptor (VDR) gene. The study aimed at evaluating the relationship between calcium-phosphorus indices and selected VDR polymorphism in children. Patients and methods. The study group consisted of 395 children, aged 6 to 18. All of them underwent gene typing using the PCR-RFLP method within polymorphic loci BsmI (rs1544410) and FokI (rs2228570) of the VDR receptor gene. Comparative group for incidence of particular genotypes consisted of 294 children, while 161 patients were evaluated for calcium-phoshporus indices and bone turnover markers (osteocalcin and N-terminal telopeptide of type I collagen) using standard methods. Skeletal densitometry (Total body and Spine programmes) examination using DXA method was carried out within study group. Statistica 8.0 PL was used for statistical analysis of relationship between evaluated results. Results. Average test results of serum calcium-phosphorus indices wthin the whole study group (n=161) fell within reference limits, only 12/161 results with concentration of 25OHD fell under 20mg/ ml. The lowest, but nevertheless within reference limits, concentration of osteocalcin was observed in 1Klinika Propedeutyki Pediatrii i Chorób Metabolicznych Kości 2 Klinika Pediatrii, Onkologii, Hematologii i Diabetologii Vitamin D receptor gene (BsmI and FokI) polymorphism and calciumphoshporus indices in children from Lodz region 1Department of Paediatric Propedeutics and Bone Metabolism Diseases, Medical University, Lodz 2Department of Pediatrics, Oncology, Hematology and Diabetology Medical University of Lodz

Evaluation of vitamin D levels in children hospitalized with symptoms suggesting metabolism disorders in skeleton system

Introduction. Commonly occurring vitamin D deficiency in children can significantly influence the development of their skeleton. Objectives. Aim of the study is to evaluate the relationship between serum vitamin D levels and the occurrence of the skeleton system disorders in children at different developmental periods. Material and methods. The study included 1007 children aged 0-18 years (471 girls and 538 boys) who were hospitalized in the Department of PropedeuticsPaediatrics and Metabolic Bone Diseases, Medical University of Lodz in 2011–2015. Patients were divided into 6 groups: group I – 0–12 months, group II – 1–3 years, group III – 4–6 years, group IV – 7–10 years, group V – 11–14 years and group VI – 15–18 years. For each patient, the concentration of hydroksycholekacyferolu (25OHD) in serum was measured with chemiluminiscent immunoassay technology. Vitamin D deficiency was diagnosed at a concentration 25OHD ≤ 30 ng/ml. Results. 721 of children (71.59%) had vitamin D deficiency, more often boys. There was an increased incidence of vitamin D deficiency with age. Average concentrations of 25OHD reaches ≥ 30 ng/ml only in August Klinika Propedeutyki Pediatrii i Chorób Metabolicznych Kości Uniwersytetu Medycznego w Łodzi 1Centralny Szpital Kliniczny Uniwersytetu Medycznego w Łodzi, Ośrodek Pediatryczny im. M. Konopnickiej Evaluation of vitamin D levels in children hospitalized with symptoms suggesting metabolism disorders in skeleton system Department of Paediatric Propedeutics and Bone Metabolic Diseases Medical University of Lodz 1M. Konopnicka Pediatric Centre, Central Hospital of the Medical University od Lodz

Effect of vitamin D receptor gene (VDR) polymorphism on body height in children – own experience

UNLABELLED Genetic and environmental factors have an influence on the process of growth and development of the body. One of numerous genetic factors can be the vitamin D receptor gene (VDR). The study aimed at evaluating the relationship between VDR polymorphism and somatic parameters in children. PATIENTS AND METHODS The study group consisted of 395 children, aged 6-18 years. All the patients underwent gene typing using the PCR-RFLP method within polymorphic loci BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236) of the VDR receptor gene. 294 children made up the control group in the study on the incidence of particular genotypes; in 161 patients somatic measurements of body weight and height were made with standard methods and skeletal densitometry (total body and spine programmes) examination was performed. Statistica 10.0 PL was used for statistical analysis. RESULTS In patients with low bone mass a relationship between body height and FokI VDR polymorphism was noted. The p-value was statistically significantly different in group I (p=0.002) and borderline significant in group III (p=0.09). None of the polymorphisms of the VDR receptor gene demonstrated any statistically significant differences in anthropometric values in the control group and in children with osteoporosis. SUMMARY The presence of the F allele of FokI polymorphism of the VDR receptor gene results in increased height, which is best observed in children with low bone mass. The FF genotype favours increased height in the study group of children from Łódź.

Selected risk factors of fractures in children — own observation

Bone fractures may depend on Vitamin D Receptor Gene (VDR), bone mineral density, bone turnover markers. Patients and methods. 161 patients were recruited and underwent: skeletal densitometry (DXA) method and bone turnover studies (Osteocalcin and Ntx).The study group was evaluated using restriction enzyme digestion at BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236), polymorphic sites of the VDR gene. Multivariate logistic regression was used to assess factor significance. The model included variables with sex- and age-standardized parameters, VDR genotypes, and bone metabolism marker levels. Results. Factors associated with fractures were: osteocalcin concentration and Z-score BMDt. Odds Ratio (OR) values equaled: 1.01 (95%Confidence Interval (95%CI) 1.00–1.02) for osteocalcin (p=0.006), and 0.66 (95%CI 0.42-1.03; p=0.07) for Z-score BMDt. In patients with reduced bone mass, factors related to fractures were: osteocalcin (0.04) and carriage of BsmI b (0.07) or ApaI a alleles (0.08). ORs were 1.01 (95%CI 1.00–1.02) for OC, 0.29 (95%CI 0.07–1.14) for BsmI, and 2.13 (95%CI 0.91–4.99) for ApaI polymorphic allele carriage. Conclusions. Carriage of BsmI b allele reduces, while carriage of ApaI a allele and heightened osteoclacin level increase the risk of fractures in study children with reduced bone mass. VDR polymorphism, bone mineral density and bone formation’s marker — osteocalcin maybe considered as risk factor for fracure in children from Lodz region.

Zależność pomiędzy wymiarami ciała u dzieci a masą kostną

Wstep W etiologii niskiej masy kostnej u dzieci i mlodziezy rozwazane są stany niedoborowe związane zarowno z niskim spozyciem wapnia, jak i wymiarami ciala. Niski wskaźnik wzglednej masy ciala (BMI) jest jednym z czynnikow ryzyka zlamania kości, glownego objawu osteoporozy i osteopenii w kazdym wieku. Celem pracy byla analiza zalezności pomiedzy wymiarami ciala a gestością mineralną u dzieci z niską masą kostną. Pacjenci i metody Badaniami objeto 2 grupy. Pierwszą stanowilo 100 dzieci w wieku 5–19 lat, w tym 48 dziewczynek i 52 chlopcow, u ktorych rozpoznano obnizenie mineralizacji szkieletu (na podstawie badania densytometrycznego w programie total body i spine). U 26 spośrod nich byla to osteoporoza, a u 74 – osteopenia. Drugą grupe (grupa kontrolna) stanowilo 50 dzieci z prawidlową mineralizacją szkieletu, wśrod nich jest 20 dziewczynek i 30 chlopcow. U wszystkich dzieci wykonano pomiary antropometryczne masy i wysokości ciala, obwodow talii i bioder oraz 4 faldow skorno-tluszczowych. Na podstawie masy i wysokości ciala wyliczono ponadto wskaźnik wzglednej masy ciala (BMI) i wskaźnik Queteleta. Analize statystyczną wykonano za pomocą programu komputerowego Statistica 6.0. Wyniki W pierwszej grupie prawidlową mase ciala stwierdzono u 72 dzieci; u 18 niedobor masy ciala, u 10 jej nadmiar. W grupie kontrolnej prawidlową mase ciala wykazano u 22 dzieci, u 8 jej niedobor, a 20 nadmiar. Stwierdzono istotną statystycznie zaleznośc pomiedzy wskaźnikami oceniającymi gestośc mineralną kości a pomiarami antropometrycznymi. Wysokie wspolczynniki korelacji wykazano wiec dla masy ciala (0,45 – grupa badana, 0,57 – grupa kontrolna), obwodu talii (0,55 – grupa kontrolna) i bioder (0,62 – grupa kontrolna) oraz BMI (0,43 – grupa badana, 0,46 – grupa kontrolna) i WQ (0,46 – grupa badana, 0,57 – grupa kontrolna). Niewielką zaleznośc stwierdzono dla faldow skorno-tluszczowych. Wnioski 1. Wieksze wymiary ciala u dzieci i mlodziezy zarowno z niską, jak i prawidlową masą kostną, korelują z wyzszą gestością mineralną szkieletu. 2. Optymalny rozwoj somatyczny dziewcząt i chlopcow jest istotnym warunkiem osiągniecia wysokiej szczytowej masy kostnej, a tym samym moze stanowic podstawe do profilaktyki osteoporozy okolomenopauzalnej i inwolucyjnej.