Síndrome De Morquio (Mucopolisacaridosis Tipo Iv) Y Embarazo

P, Hugo Salinas; R., Jessica Preisler; D, Julio Astudillo; S.M., Sergio Cerda; T, Silvia Castillo; S., Flor Fernández; V., Rodolfo Ide

doi:10.4067/s0717-75262005000600009

Cited by 3 publications

(14 citation statements)

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“…10 No other significant fertility issues in humans with MPS have been described. Some published case studies describe female or male patients with MPS having children, [16][17][18][19][20][21][22][23][24][25][26][27] but it was not reported whether any of these patients had difficulties conceiving.…”

Section: Pubertal Development and Fertility In Mpsmentioning

confidence: 99%

“…Two case reports of pregnancies in women with MPS I who had HSCT at 14 months and 4 years show that early transplantation does not necessarily preclude pregnancy in these patients. 18,19 Pregnancy and Delivery in MPS A number of case studies in the literature address pregnancy and delivery in women with MPS, [16][17][18][19][20]22,27,29 with many reporting high-risk pregnancies and deliveries.…”

Section: Pubertal Development and Fertility In Mpsmentioning

confidence: 99%

“…21,26 Most MPS mothers deliver by cesarean section (with spinal or epidural anesthesia), mainly due to cephalopelvic disproportion secondary to maternal short stature. [16][17][18]21,22 Clinical guidelines are lacking in this area as most case studies describe the results rather than the suggested management.…”

Section: Pubertal Development and Fertility In Mpsmentioning

confidence: 99%

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Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

Stewart

Bentley

Burton

et al. 2016

Journal of Inborn Errors of Metabolism and Screening

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The mucopolysaccharidosis (MPS) disorders are rare genetic diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans, leading to pulmonary, cardiac and neurological dysfunctions, skeletal anomalies, impaired vision, and/ or hearing and shortened life spans. Whereas in the past, few individuals with MPS reached adulthood, better diagnosis, multidisciplinary care, and new therapies have led to an increasing number of adult patients with MPS. Therefore, fertility and pregnancy questions in this patient population are becoming more important. Management of fertility issues and pregnancy in patients with MPS is challenging due to the lack of documented cases and a dearth in the literature on this topic. This review presents multidisciplinary expert opinions on managing fertility and pregnancy based on case studies and clinical experience presented at a meeting of MPS specialists held in Berlin, Germany, in April 2015. An overview of the existing literature on this subject is also included.

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Section: Pubertal Development and Fertility In Mpsmentioning

confidence: 99%

Section: Pubertal Development and Fertility In Mpsmentioning

confidence: 99%

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Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

Stewart

Bentley

Burton

et al. 2016

Journal of Inborn Errors of Metabolism and Screening

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“…El SM es una enfermedad hereditaria autosómica recesiva con distintos grados de afectación al metabolismo de los glúcidos, generando incapacidad para romper los enlaces de las cadenas largas de glucosamiglicanos, lo que provoca acumulación de mucopolisacáridos en distintos tejidos del cuerpo humano. (5) Los mucopolisacáridos son largas cadenas de azúcares complejos necesarios para la formación de huesos, cartílago, tendones y otros tejidos. (5,6) Esa enfermedad debe su nombre al pediatra uruguayo Luis Morquio, pionero en la descripción de sus manifestaciones clínicas.…”

Section: Introductionunclassified

“…(5) Los mucopolisacáridos son largas cadenas de azúcares complejos necesarios para la formación de huesos, cartílago, tendones y otros tejidos. (5,6) Esa enfermedad debe su nombre al pediatra uruguayo Luis Morquio, pionero en la descripción de sus manifestaciones clínicas. En 1929, estudia a una familia con 4 hijos con características similares, estableciendo los correspondientes signos y síntomas de esa patología.…”

Section: Introductionunclassified

Síndrome de Morquio, una afección infrecuente

Vallejo

Pacheco²,

Ayerve³

2020

EUGENIO ESPEJO

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Introducción: el síndrome de Morquio es una rara enfermedad hereditaria autosómica recesiva, caracterizada por la presencia de un trastorno del metabolismo de los glúcidos, generando disminución de la calidad de vida. Caso clínico: recién nacido a término de 37.6 semanas con APGAR 7-9, que minutos después de nacido muestra signos de cianosis distal y bucal, acompañado de disminución en la saturación de oxígeno al 70%. Posteriormente, se identificaron características fenotípicas y manifestaciones clínicas que permitieron la sospecha diagnóstica de esta enfermedad, lo que se corroboró mediante estudio genético. Conclusiones: El diagnóstico de síndrome de Morquio se logró establecer en los primeros momentos del nacimiento, las manifestaciones observadas en el caso que se presenta fueron las clásicas que informa la literatura médica, el estudio genético confirmó el diagnóstico.

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Pregnancy in patients with mucopolysaccharidosis: a case series

Stewart

Bentley

Burton

et al. 2016

Molecular Genetics and Metabolism Reports

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The mucopolysaccharidoses (MPS disorders) are rare inherited diseases associated with multi-organ accumulation of glycosaminoglycans, leading to musculoskeletal, respiratory, cardiac, neurological, ophthalmological, otolaryngological, and gastrointestinal abnormalities. As a result of improvements in diagnosis, multi-disciplinary care, and therapies such as enzyme replacement therapy and hematopoietic stem cell transplantation, an increasing number of patients with MPS are reaching adulthood and are involved in family planning. Data on fertility and pregnancy outcome in MPS is sparse and comprises primarily isolated case reports. To address this evidence gap, we present a case series on fertility and pregnancy in eight mothers and five fathers with MPS. This case series demonstrates that women with MPS have high-risk pregnancies and deliveries secondary to their underlying disease. However, with appropriate pre-conceptual multi-disciplinary evaluation, optimization and discussion regarding potential risks, combined with regular multi-disciplinary maternal and fetal surveillance in a tertiary center, the outcome of most pregnancies in this case series seems to be favorable with all babies developing normally. Partners of fathers with MPS had uncomplicated pregnancies and deliveries. All children were healthy, with normal growth and development.

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Síndrome De Morquio (Mucopolisacaridosis Tipo Iv) Y Embarazo

Abstract: Se presenta el caso de una paciente embarazada, portadora de Síndrome de Morquio (Mucopolisacaridosis tipo IV), que evoluciona con polihidroamnios y disnea. Se comenta el manejo y resolución del caso.

Cited by 3 publications

References 0 publications

Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

Síndrome de Morquio, una afección infrecuente

Pregnancy in patients with mucopolysaccharidosis: a case series

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