Growth patterns and the use of growth hormone in the mucopolysaccharidoses

Polgreen, Lynda E.; Miller, Bradley S.

doi:10.3233/prm-2010-0106

Cited by 36 publications

(29 citation statements)

References 105 publications

(132 reference statements)

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“…Montano et al conducted a longitudinal and cross-sectional study of 354 Morquio A patients using questionnaires, and found that the average length/height of infants and young children with Morquio A was similar to that of general population, but it was lower than the normal range (<−2 Standard Deviation Score) when they were about 4 years old, and the growth rate was also decreased. [ 13 ] Polgreen and Miller reported 2 cases (13- and 17-year-old girls, respectively) with Morquio A, and found that their growth hormone levels were in the normal range after the stimulation test, [ 14 ] which was similar to our findings. The difference was that the level of IGF-1 was normal in our patient, but was lower in the cases reported by Polgreen and Miller, which suggests that the growth retardation in these patients is not caused by insufficient growth hormone secretion.…”

Section: Discussionsupporting

confidence: 89%

Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA

Ren²,

Yin³

et al. 2018

Medicine

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Rationale:Mucopolysaccharidosis IVA (Morquio A) is a catabolic mucopolysaccharide disorder caused by galactose-6-sulfate sulfatase deficiency. It is an autosomal recessive inherited disease. Previous reports on clinical characteristics of Morquio A mainly focused on growth retardation, skeletal deformities, and organ damage in children and adolescents, while the effects of mucopolysaccharide metabolism disorders on endocrine hormone metabolism level have not been reported. Herein, we reported the endocrine hormone metabolism in a case diagnosed as Morquio A.Patient concerns:The patient was a 17-year-old girl with growth retardation, hearing loss, and severe skeletal dysplasia(scoliosis and chicken breast), and was evaluated to have normal nervous system function and intelligence by physicians.Diagnoses:She was diagnosed as Morquio A based on gene analysis, mucopolysaccharide-related enzymes and her clinical features.Interventions:The patient didn’t accepted the enzyme replacement therapy.Outcomes:She had a homozygous mutation of the GALNS gene. The b-glucuronidase content in the blood was reduced. The serum sodium, serum adrenocorticotropic hormone, and cortisol rhythms (8 AM) were decreased. The levels of PRA(plasma renin activity) , PAII(plasma angiotensin II), and PALD(plasma aldosterone) were elevated. Bone mineral density suggests osteoporosis. There were no abnormalities in bone metabolism indicators, growth hormone, thyroid hormone, and sex hormones. In summary, the level of endocrine hormones in patients with mucopolysaccharidosis IV changes.Lessons:This is the report on endocrine hormone level in a patient with mucopolysaccharidosis IV in China. Due to the disease may have relatively incomplete adrenal function, which provides a basis for future understanding and diagnosis of this disease.

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Section: Discussionsupporting

confidence: 89%

Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA

Ren²,

Yin³

et al. 2018

Medicine

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“…The accumulation of DS (but not HS) by fibroblasts leads to a disruption of normal elastogenesis and leads to deficiency in elastic fibers in the skin, tendons, and cardiac valvular apparatus. The proper formation of elastic fibers is also an important factor in 39 maintaining the proper shapes of normal embryonal skeleton and early skeletal deformations in MPS I, II and VI may be associated with the disorder 42 .…”

Section: Impaired Elastogenesismentioning

confidence: 99%

Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation

Opoka-Winiarska

Jurecka

Emeryk

et al. 2013

Osteoarthritis and Cartilage

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The immune and skeletal systems have a number of shared regulatory molecules and many relationships between bone disorders and aberrant immune responses in MPS can be explained by osteoimmunology. The treatment options currently available are not sufficiently effective in the prevention, inhibition and treatment of osteoarticular symptoms in MPS disease. A lot can be learnt from interactions between skeletal and immune systems in autoimmune diseases such as rheumatoid arthritis (RA) and similarities between RA and MPS point to the possibility of using the experience with RA in the treatment of MPS in the future. The use of different anti-inflammatory drugs requires further study, but it seems to be an important direction for new therapeutic options for MPS patients.

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“…In recent years the development of new therapies—represented by enzyme replacement therapies, substrate inhibition therapy and haematopoietic cell transplantation—have changed the treatment of these patients, with a fundamental shift in the approach from symptomatic management to therapeutic intervention; in many cases, the introduction of these new therapies has significantly improved the duration and quality of life for patients [9, 10]. …”

Section: Introductionmentioning

confidence: 99%

Imaging findings of mucopolysaccharidoses: a pictorial review

et al. 2013

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IntroductionMucopolysaccharidosis (MPS) represent a heterogeneous group of inheritable lysosomal storage diseases in which the accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive damage of affected tissues. The typical symptoms include organomegaly, dysostosis multiplex, mental retardation and developmental delay. Definitive diagnosis is usually possible through enzymatic assays of the defective enzyme in cultured fibroblasts or leukocytes.Imaging findingsRadiological and neuroradiological findings are reported. The most important neuroradiological features include abnormal signal intensity in the white matter, dilatation of periventricular spaces, widening of cortical sulci, brain atrophy, enlargement of extraventricular spaces and spinal cord compression. With reference to the skeletal system, most important radiological findings include multiplex dysostosis, which is represented by several bone malformations found in the skull, hands, legs, arms and column. The abnormal storage of GAGs leads to liver and spleen enlargement; it also damages cartilage layers and synovial recesses in the joints.ConclusionThe aim of this pictorial essay is to describe the imaging findings of MPS, represented by skeletal and neurological features; skeletal X-ray and MR allow an assessment of the severity of disease, to plan medical and surgical therapy and to evaluate response to treatment.Teaching Points• To describe the imaging findings common to different types of MPS.• To describe multiplex dysostosis encountered in the axial and appendicular skeleton.• To evaluate neuroradiological features of MPS, including brain abnormal signal intensity and atrophy.• To evaluate important otorhinolaryngological problems, such as otitis media and airways obstruction.

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Growth patterns and the use of growth hormone in the mucopolysaccharidoses

Cited by 36 publications

References 105 publications

Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA

Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA

Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation

Imaging findings of mucopolysaccharidoses: a pictorial review

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