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1.
Nephrol Dial Transplant ; 36(8): 1484-1492, 2021 07 23.
Artigo em Inglês | MEDLINE | ID: mdl-33099630

RESUMO

BACKGROUND: Infantile hypercalcaemia (IH) is a vitamin D3 metabolism disorder. The molecular basis for IH is biallelic mutations in the CYP24A1 or SLC34A1 gene. These changes lead to catabolism disorders (CYP24A1 mutations) or excessive generation of 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] (SLC34A1 mutations). The incidence rate of IH in children and the risk level for developing end-stage renal disease (ESRD) are still unknown. The aim of this study was to analyse the long-term outcome of adolescents and young adults who suffered from IH in infancy. DESIGN: Forty-two children (23 girls; average age 10.7 ± 6.3 years) and 26 adults (14 women; average age 24.2 ± 4.4 years) with a personal history of hypercalcaemia with elevated 1,25(OH)2D3 levels were included in the analysis. In all patients, a genetic analysis of possible IH mutations was conducted, as well as laboratory tests and renal ultrasonography. RESULTS: IH was confirmed in 20 studied patients (10 females). CYP24A1 mutations were found in 16 patients (8 females) and SLC34A1 in 4 patients (2 females). The long-term outcome was assessed in 18 patients with an average age of 23.8 years (age range 2-34). The average glomerular filtration rate (GFR) was 72 mL/min/1.73 m2 (range 15-105). Two patients with a CYP24A1 mutation developed ESRD and underwent renal transplantation. A GFR <90 mL/min/1.73 m2 was found in 14 patients (77%), whereas a GFR <60 mL/min/1.73 m2 was seen in 5 patients (28%), including 2 adults after renal transplantation. Three of 18 patients still had serum calcium levels >2.6 mmol/L. A renal ultrasound revealed nephrocalcinosis in 16 of 18 (88%) patients, however, mild hypercalciuria was detected in only one subject. CONCLUSIONS: Subjects who suffered from IH have a greater risk of progressive chronic kidney disease and nephrocalcinosis. This indicates that all survivors of IH should be closely monitored, with early implementation of preventive measures, e.g. inhibition of active metabolites of vitamin D3 synthesis.


Assuntos
Hipercalcemia , Nefrocalcinose , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa , Vitamina D3 24-Hidroxilase , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Hipercalcemia/genética , Masculino , Mutação , Nefrocalcinose/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/genética , Sobreviventes , Vitamina D3 24-Hidroxilase/genética , Adulto Jovem
2.
Metab Brain Dis ; 33(1): 191-199, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29116603

RESUMO

Leigh syndrome (LS), subacute necrotizing encephalomyelopathy is caused by various genetic defects, including m.9185T>C MTATP6 variant. Mechanism of LS development remains unknown. We report on the acid-base status of three patients with m.9185T>C related LS. At the onset, it showed respiratory alkalosis, reflecting excessive respiration effort (hyperventilation with low pCO2). In patient 1, the deterioration occurred in temporal relation to passive oxygen therapy. To the contrary, on the recovery, she demonstrated a relatively low respiratory drive, suggesting that a "hypoventilation" might be beneficial for m.9185T>C carriers. As long as circumstances of the development of LS have not been fully explained, we recommend to counteract hyperventilation and carefully dose oxygen in patients with m.9185T>C related LS.


Assuntos
Hiperventilação/genética , Doença de Leigh/genética , ATPases Mitocondriais Próton-Translocadoras/genética , Mutação/genética , Adulto , Alcalose Respiratória/genética , Criança , Pré-Escolar , Humanos , Hiperventilação/diagnóstico , Doença de Leigh/diagnóstico
3.
Cureus ; 14(2): e22710, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35386177

RESUMO

Even after two years of the Coronavirus Disease 2019 (COVID-19) pandemic, despite known risk factors, we are still unable to predict the severity of the infection in specific patients. Due to the contradictory data, the protective role of immunosuppression in preventing the severe course of the infection remains uncertain. Therefore, we want to discuss the influence of several immunosuppressive factors on the COVID-19 pattern in children, based on two case reports regarding 17-year-old boys with other immunosuppressive factors and a completely different course of the disease. The first patient suffered from AIDS, syphilis and primary central nervous system B-cell lymphoma, treated with radiotherapy. He experienced a light path of the infection, presenting only periodically appearing cough with no X-ray inflammatory changes. Nevertheless, due to the risk of severe COVID-19 and transient hypoxia, remdesivir was administered. He remained in a generally good condition and his follow-up did not reveal any noticeable complications. The second patient was characterised by Down syndrome, obesity, polyarteritis nodosa and chronic immunosuppressive therapy. He developed massive pneumonia, required treatment in the intensive care unit with the use of mechanical ventilation, remdesivir and anakinra. Despite the initial improvement of his general condition, including the degree of lung involvement and respiratory function, he developed an intracerebral haemorrhage, leading to brain herniation and ultimately death. In conclusion, HIV infection, oncological and immunosuppressive treatment do not seem to predispose to the severe course of COVID-19, whereas Down syndrome and obesity do.

4.
Ginekol Pol ; 81(2): 149-53, 2010 Feb.
Artigo em Polonês | MEDLINE | ID: mdl-20232716

RESUMO

Adequate vitamin D intake and its status are important not only for bone health and Ca-P metabolism, but for optimal function of many organs and tissues throughout the body. Due to documented changes in dietary habits and physical activity level, both observed in growing children and adults, the prevalence of vitamin D insufficiency is continuously increasing. Basing on current literature review and opinions of National Consultants and experts in the field, polish recommendations for prophylactic vitamin D supplementation in infants, toddlers, children and adolescents as well as in adults, including pregnant and lactating women have been established.


Assuntos
Conservadores da Densidade Óssea/uso terapêutico , Conhecimentos, Atitudes e Prática em Saúde , Prevenção Primária/organização & administração , Luz Solar , Deficiência de Vitamina D/prevenção & controle , Vitamina D/uso terapêutico , Adolescente , Adulto , Criança , Proteção da Criança/estatística & dados numéricos , Feminino , Humanos , Bem-Estar do Lactente/prevenção & controle , Recém-Nascido , Masculino , Programas Nacionais de Saúde/normas , Fenômenos Fisiológicos da Nutrição , Estado Nutricional , Polônia/epidemiologia , Gravidez , Complicações na Gravidez/prevenção & controle , Garantia da Qualidade dos Cuidados de Saúde/normas , Sociedades Médicas/normas , Adulto Jovem
5.
Pol Merkur Lekarski ; 28(164): 130-3, 2010 Feb.
Artigo em Polonês | MEDLINE | ID: mdl-20369742

RESUMO

Appropriate state procurement system for vitamin D is important not only for the proper functioning of the skeletal, maintaining calcium and phosphorus homeostasis, but also for a number of other organs and tissues in our body. In connection with the change in lifestyle including dietary habits change, the widespread use of UV filters and less outdoor activity, observed an increase in the percentage of vitamin D deficiency, both in population and developmental age and adults. Based on the results of recent scientific research team of experts provides recommendations for preventive Polish supply of vitamin D in infants, children, adolescents and adults, including pregnant women and nursing mothers.


Assuntos
Deficiência de Vitamina D/prevenção & controle , Vitamina D/administração & dosagem , Adolescente , Adulto , Aleitamento Materno , Criança , Suplementos Nutricionais , Comportamento Alimentar , Feminino , Alimentos Fortificados , Humanos , Lactente , Recém-Nascido , Masculino , Polônia , Gravidez , Adulto Jovem
6.
Arch Med Sci ; 14(1): 138-150, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29379544

RESUMO

INTRODUCTION: Secondary hemophagocytic lymphohistiocytosis (sHLH) is a life-threatening syndrome of severe hyperinflammation which is often triggered by infection or autoimmune disease (macrophage activation syndrome - MAS). The aim of our study was to assess the frequency of sHLH/MAS in children treated in our institution and to compare the effectiveness of various therapeutic interventions. MATERIAL AND METHODS: Between 2005 and 2013, 24 children (age: 1-17 years) were consecutively treated for sHLH/MAS. Therapy was based on glucocorticoids (GCs) in high or standard doses (hd-GCs or sd-GCs), intravenous immunoglobulin (IVIG), and cyclosporin A (CyA). A comparison of selected laboratory and clinical parameters during the first 72 h of treatment and after a week from the last intervention applied in the first 72 h after diagnosis was performed retrospectively. RESULTS: The majority of patients (14/24, 58%) suffered from sHLH/MAS in the course of an autoimmune disease (12 patients diagnosed with a systemic form of juvenile idiopathic arthritis). We found with a confidence level of 95% that the application of hd-GCs in the first 24 h caused rapid alleviation of fever, reduction of hepatosplenomegaly, and an increase in thrombocytes and s-fibrinogen concentrations. The use of combination therapy with hd-GCs, IVIG, and CyA in the first 72 h caused a faster increase in s-fibrinogen. All patients survived and were alive at the follow-up of 1-8 years. CONCLUSIONS: The results indicate that treatment of sHLH/MAS based on hd-GCs, CyA and IVIG is an effective therapy in children.

7.
Przegl Epidemiol ; 61(2): 401-7, 2007.
Artigo em Polonês | MEDLINE | ID: mdl-17956060

RESUMO

Most of the publications report cases of Legionella infection among adults. In our studies the level of IgM to Legionella pneumophila sg 1 was determined by ELISA method in serum samples of 144 children with symptoms of respiratory tract infections. Children were from 5 months to 18 years old. The significant level of IgM was found in 41 sera collected from 34 children aged 2 years and above. There were samples collected from 21 girls and 13 boys. The highest percentage of significant level of IgM was found in the age group 4-10 years (31.8%) and 10-14 years (31.7%). Among the youngest children (below 2 years) the equivocal results were found in 6 samples. The significant difference in IgM level was found between the children age groups. There was not found the significant differences in IgM level depending on gender. Obtained results indicated the importance of such kind of studies and necessity of adjusting cut-off values to age groups of children.


Assuntos
Imunoglobulina M/sangue , Doença dos Legionários/imunologia , Infecções Respiratórias/imunologia , Infecções Respiratórias/microbiologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Lactente , Doença dos Legionários/sangue , Masculino
8.
J Appl Genet ; 58(3): 349-353, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28470390

RESUMO

Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit. D". All persons were found to carry mutations in CYP24A1 or SLC34A1, nine and two persons respectively. The changes were biallelic, with one exception. Incidence of IIH in Polish population estimated on the basis of allele frequency of recurrent p.R396W CYP24A1 variant, is 1:32,465 births. It indicates that at least a thousand homozygotes and compound heterozygotes with risk of IIH live in the country. Differences in mechanism of developing hypercalcemia indicate that its prevention may vary in both IIH defects. Theoretically, vit. D restriction is a first indication for CYP24A1 defect (which disturbs 1,25(OH)2D degradation) and phosphate supplementation for SLC34A1 defect (which impairs renal phosphate transport). In conclusion, we suggest that molecular testing for CYP24A1 and SLC34A1 mutations should be performed in each case of idiopathic hypercalcemia/hypercalciuria, both in children and adults, to determine the proper way for acute treatment and complications prevention.


Assuntos
Hipercalcemia/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/genética , Vitamina D3 24-Hidroxilase/genética , Adulto , Análise Mutacional de DNA , Feminino , Frequência do Gene , Heterozigoto , Homozigoto , Humanos , Masculino , Mutação , Nefrocalcinose/genética , Polônia , Vitamina D , Adulto Jovem
10.
Nutrition ; 29(7-8): 988-92, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23644008

RESUMO

OBJECTIVES: Home parenteral nutrition (HPN) prevents malnutrition in children with intestinal failure improving chances for the best possible physical development and quality of life. For organizational reasons, in Poland the majority of children on HPN receive nutrition mixtures prepared at home by their parents. The aim of this study was to evaluate whether this method influences the frequency of catheter-related bloodstream infections (CRBSIs). METHODS: The aim of this prospective study was to assess the incidence of CRBSIs from January 2008 to December 2010 in 181 children on HPN and to compare the incidence in two subgroups of these children: group Ph (pharmacy) consisting of 43 patients receiving mixtures prepared in the hospital pharmacy weekly, and group H (home)-138 patients receiving nutrition mixtures prepared daily at home by their caregivers. Central venous CRBSIs were diagnosed by the presence of clinical signs (such as fever, chills, malaise, vomiting) associated with positive blood culture from the central catheter. RESULTS: From 2008 to 2010 parenteral nutrition was administrated during 128 905 catheter-days in 181 patients, and CRBSIs occurred 129 times (1 episode per 1000 catheter-days) in 65 patients. There were 42 bloodstream infections in group Ph during 29 225 catheter-days (i.e., 1.43 per 1000 catheter-days), whereas 87 bloodstream infections occurred in group H during 100 775 catheter-days (i.e., 0.86 per 1000 catheter-days; P = 0.0516). CONCLUSIONS: Preparing parenteral nutrition mixtures at home by trained parents is a safe method of HPN with a slightly (however insignificantly) lower incidence of CRBSIs compared with hospital pharmacy-prepared parenteral nutrition mixtures.


Assuntos
Infecções Relacionadas a Cateter/epidemiologia , Soluções de Nutrição Parenteral/efeitos adversos , Nutrição Parenteral no Domicílio/efeitos adversos , Pais/educação , Adolescente , Adulto , Infecções Relacionadas a Cateter/etiologia , Infecções Relacionadas a Cateter/microbiologia , Infecções Relacionadas a Cateter/prevenção & controle , Cateterismo Venoso Central/efeitos adversos , Catéteres/microbiologia , Criança , Pré-Escolar , Humanos , Incidência , Lactente , Desnutrição/prevenção & controle , Valor Nutritivo , Polônia , Estudos Prospectivos , Qualidade de Vida , Fatores de Risco , Adulto Jovem
11.
Endokrynol Pol ; 64(4): 319-27, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24002961

RESUMO

INTRODUCTION: Adequate Vitamin D intake and its concentration in serum are important for bone health and calcium-phosphate metabolism as well as for optimal function of many organs and tissues. Documented trends in lifestyle, nutritional habits and physical activity appear to be associated with moderate or severe Vitamin D deficits resulting in health problems. Most epidemiological studies suggest that Vitamin D deficiency is prevalent among Central European populations. Concern about this problem led to the organising of a conference focused on overcoming Vitamin D deficiency. METHODS: After reviewing the epidemiological evidence and relevant literature, a Polish multidisciplinary group formulated theses on recommendations for Vitamin D screening and supplementation in the general population. These theses were subsequently sent to Scientific Committee members of the 'Vitamin D - minimum, maximum, optimum' conference for evaluation based on a ten-point scale.With 550 international attendees, the meeting 'Vitamin D - minimum, maximum, optimum' was held on October 19-20, 2012 in Warsaw(Poland). Most recent scientific evidence of both skeletal and non-skeletal effects of Vitamin D as well as the results of panellists' voting were reviewed and discussed during eight plenary sessions and two workshops. RESULTS: Based on many polemical discussions, including post-conference networking, the key opinion leaders established ranges of serum 25-hydroxyVitamin D concentration indicating Vitamin D deficiency [< 20 ng/mL (< 50 nmol/L)], suboptimal status [20-30 ng/mL(50-75 nmol/L)], and target concentration for optimal Vitamin D effects [30-50 ng/mL (75-125 nmol/L)]. General practical guidelines regarding supplementation and updated recommendations for prophylactic Vitamin D intakes in Central European neonates, infants, children and adolescents as well as in adults (including recommendations for pregnant and breastfeeding women and the elderly) were developed. CONCLUSIONS: Improving the Vitamin D status of children, adolescents, adults and the elderly must be included in the priorities of physicians,healthcare professionals and healthcare regulating bodies. The present paper offers elaborated consensus on supplementation guidance and population strategies for Vitamin D in Central Europe.


Assuntos
Suplementos Nutricionais , Promoção da Saúde/organização & administração , Deficiência de Vitamina D/diagnóstico , Deficiência de Vitamina D/prevenção & controle , Vitamina D/administração & dosagem , Adolescente , Adulto , Fatores Etários , Idoso , Criança , Pré-Escolar , Europa (Continente) , Feminino , Humanos , Lactente , Recém-Nascido , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Osteoporose Pós-Menopausa/prevenção & controle , Polônia , Guias de Prática Clínica como Assunto , Gravidez , Complicações na Gravidez/prevenção & controle , Deficiência de Vitamina D/epidemiologia
12.
Med Wieku Rozwoj ; 14(2): 218-23, 2010.
Artigo em Polonês | MEDLINE | ID: mdl-20919473

RESUMO

Adequate vitamin D intake and its status as well outdoor physical activity are important not only for normal bone development and Ca-P metabolism, but for optimal function of many organs and tissues throughout the body. Due to documented changes in dietary habits and physical activity level, both observed in growing children and adults, the prevalence of vitamin D insufficiency is continuously increasing. National Consultants and experts in this field established the Polish recommendations for prophylactic vitamin D supplementation in infants, toddlers, children and adolescents as well as in adults, including pregnant and lactating women based on current literature review. Taking into consideration pleyotropic vitamin D action and safety aspects serum 25-hydroxyvitamin D (25-OHD) level of 20-60 ng/ml (50-750 nmol/l) in children and 30-80 ng/ml (75-200 nmol/I) in adults is considered as optimal. Sunlight exposure inducing vitamin D production in the skin is main endogen source of vitamin D in the body but sunscreens may reduce skin synthesis by 90%. In Poland, skin synthesis is effective only from April to September so other sources of vitamin D such as diet and supplements play an important role. All newborns should be supplemented with 400 IU/d of vitamin D beginning from the first few days of life and continue during infancy. In formula fed infants vitamin D intake from the diet should be taken into account. In preterm infants higher total vitamin D intake (400-800 IU/day) is recommended till 40 weeks post conception. Total vitamin D intake in children and adolescents required from all sources (diet and/or supplements) should be 400 IU/d between October and March and throughout the whole year in case of inadequate vitamin D skin synthesis during the summer months. In overweight/obese children supplementation with higher dosage of vitamin D up to 800-1000 IU/d should be considered. Adults require 800-1000 IU/d of vitamin D. In pregnant and lactating women such supplementation is recommended in case of inadequate intake from diet and/or skin synthesis supplementation. Monitoring of serum 25-OHD level to define optimal dosage should be considered.


Assuntos
Guias de Prática Clínica como Assunto , Deficiência de Vitamina D/prevenção & controle , Vitamina D/administração & dosagem , Adolescente , Adulto , Criança , Pré-Escolar , Suplementos Nutricionais , Feminino , Humanos , Lactente , Alimentos Infantis , Recém-Nascido , Lactação/fisiologia , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/prevenção & controle , Prevalência , Pele/metabolismo , Luz Solar , Vitamina D/biossíntese , Deficiência de Vitamina D/epidemiologia , Adulto Jovem
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