Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

Albano, Lilian Maria José; Sugayama, Sofia S. M. M.; Bertola, Débora Romeo; Andrade, Carlos E. F.; Utagawa, Claudia Yamada; Puppi, Flávia; Nader, Helena B.; Toma, Leny; Coelho, Janice Carneiro; Leistner, Sandra; Burin, Maira G.; Giugliani, Roberto; Chong, A.K.S.

doi:10.1590/s0041-87812000000600004

Cited by 25 publications

(23 citation statements)

References 8 publications

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“…Esta criança tinha alterações somáticas severas, o que a diferencia do tipo V (Sín -drome de Scheie), cujas alterações são leves, ao lado de opacificação corneana. Pode também ser facilmente diferenciada do tipo IV (Síndrome de Mórquio), onde não encontramos fascie grotesco, sendo o tórax em barril e platispondilia universal as características predominantes (1,3,6).…”

Section: Discussionunclassified

“…Os casos 2 e 3 tinham muitas semelhanças com o caso 1 e, além dos dados clínicos, da mucopolissacaridúria excessiva feita como exame de triagem, níveis baixos de arilsufatase B em ambos os casos indicam que trata-se de mucopolissacaridose tipo VI (6,8). O fenótipo deste tipo é muito semelhante ao tipo I, mas a determinação da α-iduronidase (elevada no tipo I) foi normal em ambos os casos (4,5).…”

Section: Discussionunclassified

“…Exames laboratoriais e de imagem: Cálcio: 8,8mg/dl (8,(6)(7)(8)(9)(10)5) Pediátrica para avaliação de baixa estatura. A mãe referia que a criança nascera de parto cesáreo, a termo, com 2,85kg, 51cm, de aparência normal.…”

Section: Descrição Dos Casosunclassified

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Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação endócrina de três casos

Borges

Tavares

Silva

et al. 2003

Arq Bras Endocrinol Metab

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RESUMOMucopolissacaridose do tipo VI é uma doença de armazenamento lisossômico causada pela deficiência da enzima arilsulfatase B (ASB), de herança autossômica recessiva. Apresentamos os aspectos endócrinos de 3 casos: o primeiro foi diagnosticado numa menina de 6 anos e os outros em dois irmãos, um menino de 4,1 anos e uma menina de 2,9 anos. Nas 3 crianças observaram-se peso e altura normais ao nascimento, fenótipo compatível com mucopolissacaridose a partir dos 2 anos, associado a baixa estatura, sem retardo mental e com glicosaminoglicanos elevados na urina. O hGH estimulado pela clonidina (0,1mg/m 2 ) apresentou picos de 6,2, 5,6 e 4,6ng/ml nos casos 1, 2 e 3. Valores estímulados pela hipoglicemia foram de 30,3, 8,8 e 8,2ng/ml, respectivamente. IGF1 e IGFBP3 feitos nos casos 2 e 3 foram normais. Nos 3 casos, TSH, T 4 livre e anticorpos antitireoidianos foram normais, bem como cálcio e fósforo. Durante o seguimento do caso 2 foi detectada insuficiência adrenal secundária prontamente tratada. A idade óssea foi atrasada e a sela túrcica alargada ao RX de crânio. Ressonância magnética feita nos casos 2 e 3 revelou sela vazia. Como em outros nanismos dismórficos, não encontramos deficiências hormonais que pudessem justificar a baixa estatura. Mucopolysaccharidosis VI is a lisosomal storage disorder caused by deficiency of arylsulfatase B (ASB), inherited as an autosomal recessive trait. We investigated 3 such cases: the first was diagnosed in a 6-year old girl and the other two, a girl and boy siblings, were 2.9 and 4.1y, respectively. The children were normal at birth and the onset of clinical manifestations began at the age of 2y, associated with growth deficiency without mental deterioration. They were screened for inborn errors of metabolism and increased urinary levels of glycosaminoglycans were detected. A clonidine stimulation (0.1mg/m 2 ) for hGH gave peak levels of 6.2, 5.6 and 4.6ng/ml, in cases 1, 2 and 3. In response to insulin-induced hypoglycemia (0.1UI/kg), hGH peak values were 30.3, 8.8 and 8.2ng/ml, respectively. IGF1 and IGFBP3 in cases 2 and 3 were normal. In all, TSH, free T4, anti-TPO, anti-TG antibodies, Ca, and P were normal. On follow-up, secondary adrenocortical insufficiency was detected and treated in case 2. Delayed bone age and elongated sella turcica were found. Pituitary MRI scans showed an empty sella in cases 2 and 3. Like other dysmorphic dwarfisms, we were unable to find hormonal deficiencies that could justify the short stature. (Arq Bras Endocrinol Metab 2003;47/1:87-94)

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Section: Discussionunclassified

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Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação endócrina de três casos

Borges

Tavares

Silva

et al. 2003

Arq Bras Endocrinol Metab

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“…Estimates of incidence of the disease range from approximately 1,3-4,5:100.000 live births [2,3], although preliminary data in Brazil indicate that this incidence may be higher [4,5].…”

Section: Introductionmentioning

confidence: 99%

Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI

Giugliani

Carvalho²,

Herber³

et al. 2011

CPB

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Mucopolysaccharidosis VI is caused by accumulation of the glycosaminoglycan dermatan sulfate in all tissues due to decreased activity of the enzyme arylsulfatase B. Patients exhibit multisystemic signs and symptoms in a chronic and progressive manner, especially with changes in the skeleton, cardiopulmonary system, cornea, skin, liver, spleen and meninges. Patients usually have normal intelligence. In the past, treatment of mucopolysaccharidoses was limited to palliative medical care. The outcome for affected patients improved with the introduction of new technologies as hematopoietic stem cell transplantation, relegated to specific situations after enzyme replacement therapy (ERT) became available. The specific ERT for MPS VI, galsulfase (Naglazyme®, Biomarin Pharmaceutical) was approved in 2005 by FDA and in 2006 by EMEA, and three clinical studies including 56 patients have evaluated the efficacy and safety. Long-term follow up data with patients treated up to 5 years showed that ERT is well tolerated and associated with sustained improvements in the patients' clinical condition. Intrathecal ERT may be considered in situations of high neurosurgical risk but still it is experimental in humans, as is intra-articular ERT. It is possible that the full impact of this therapy will only be demonstrated when patients are identified and treated soon after birth, as it was shown that early introduction of ERT produced immune tolerance and improved enzyme effectiveness in the cat model. New insights on the pathophysiology of MPS disorders are leading to alternative therapeutic approaches, as gene therapy, inflammatory response modulators and substrate reduction therapy.

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“…4 Most of the literature on MPS II concerns case reports and/or case series that include patients with other types of MPS. [5][6][7][8] Studies about the natural history of MPS II are rare and the existing ones use a retrospective approach; 9 patients are often normal at birth, and the progressive course of the disease is the general rule, even though the stages of progression have not been clearly defined in the literature. 1 into neuronopathic or non-neuronopathic.…”

Section: Introductionmentioning

confidence: 99%

Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II

Pinto

Schwartz

Puga

et al. 2006

J. Pediatr. (Rio J.)

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Objective: To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period.Methods: Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre. The initial assessment and the assessment at 12 months included: anamnesis, physical examination, abdominal nuclear magnetic resonance, echocardiogram, 6-minute walk test, audiometry, serum biochemical tests and urinary glycosaminoglycan concentration.Results: The major findings after comparing the assessments were: 1) two patients had growth retardation; 2) two patients showed negative weight change; 3) one patient went from obese to overweight; 4) three patients revealed left ventricle hypertrophy; of these, two increased the number of cardiac valve lesions; 5) there was no statistically significant difference between the mean distances obtained on the 6-minute walk test; 6) there was splenic enlargement; 7) there was an increase in gamma-glutamyltransferase levels; 8) the urinary concentration of glycosaminoglycans remained unchanged. Conclusions:In general, echocardiographic findings were the only variable with deterioration and possible immediate clinical consequences. Although a 12-month period is too short to detect changes in most variables related to mucopolysaccharidosis II, its progressive nature should be taken into account when evaluating the efficiency of treatment protocols.

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Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

Abstract: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.

Cited by 25 publications

References 8 publications

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação endócrina de três casos

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação endócrina de três casos

Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI

Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II

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