Treatment of severe primary IGF-1 deficiency using rhIGF-1 preparation – first three years of Polish experience
نویسندگان
چکیده
منابع مشابه
Phenotypes, investigation and treatment of primary IGF-1 deficiency.
GH insensitivity, also known as primary IGF-1 deficiency (PIGFD), presents as growth failure, and in its severe form is associated with dysmorphic and metabolic abnormalities. PIGFD is caused by genetic defects in the GH-IGF-1 axis. The field of PIGFD due to mutations affecting GH action has evolved since the original description of the extreme phenotype related to homozygous GH receptor mutati...
متن کاملrhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency)
Background. Congenital disorders of glycosylation (CDG) are a group of rare disorders in which glycosylation required for proper protein-protein interactions and protein stability is disrupted, manifesting clinically with multiple system involvement and growth failure. The insulin-like growth factor (IGF) system plays an important role in childhood growth and has been shown to be dysfunctional ...
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چکیده ندارد.
15 صفحه اولAssessment of Alpha-1 Antitrypsin Deficiency in Patients with Severe Chronic Obstructive Pulmonary Disease
Background and Aims: Chronic obstructive pulmonary disease (COPD) is a kind of pulmonary diseases characterized by chronic obstruction of lung that is in the form of a diffuse narrowing of airways resulting in air flow resistance. Alpha-1 antitrypsin (AAT) deficiency is genetically relatively common risk factor in patients with COPD throughout the world and the exact cause of its prevalence is ...
متن کاملNewborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
BACKGROUND Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of MCAD and presymptomatic treatment can potentially reduce morbidity and mortality. OBJECTIVES To eva...
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ژورنال
عنوان ژورنال: Endokrynologia Polska
سال: 2019
ISSN: 2299-8306,0423-104X
DOI: 10.5603/ep.a2018.0074