Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice

Cozzolino, Mauro; Perelli, Federica; Maggio, Luana; Coccia, Maria Elisabetta; Quaranta, Michela; Gizzo, Salvatore; Mecacci, Federico

doi:10.1007/s00404-016-4012-2

Cited by 84 publications

(42 citation statements)

References 40 publications

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“…Using this concept, we were able to observe significant increases in DXA follow-up scans (up to 33%), which indicate the ability of the skeleton to recover [42,43]. Besides this described bone-specific approach, pregnant individuals with known monogenic bone disorders (e.g., osteogenesis imperfecta) may furthermore benefit from a multidisciplinary treatment in a referral center in order to also monitor other complications of connective tissue disorders and the fetal well-being [44]. Whether a cesarean section is associated with fewer complications than vaginal delivery remains controversial but needs to be considered and decided on an individual basis.…”

Section: Discussionmentioning

confidence: 97%

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

et al. 2018

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Our data show that previously unrecognized monogenic bone disorders play an important role in PAO. Pregnancy should be considered a skeletal risk factor, which can promote the initial clinical onset of such skeletal disorders. The underlying increased calcium demand is essential in terms of prophylactic and therapeutic measures, which are especially required in individuals with a genetically determined low bone mass. The implementation of this knowledge in clinical practice can enable the partial recovery of the skeleton. Consistent genetic studies are needed to analyze the frequency of pathogenic variants in women with PAO.

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Section: Discussionmentioning

confidence: 97%

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

et al. 2018

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“…Bisphosphonates used routinely by this patient group is contraindicated for the pregnancy as they may cause fetal skeletal anomalies or congenital malformations, and many studies recommend discontinuing them after conception. [2,3] However, these problems may be mitigated by calcium and vitamin D support and keeping weight gain under control. It has been shown that checking the values of calcium, phosphate, vitamin D, parathyroid hormone, LDH, CK, CRP, and kidney and liver function tests by a 3month laboratory analysis would help the management of treatment.…”

Section: Discussionmentioning

confidence: 99%

“…[1] Type I is the common one which has a better prognosis. [2] Type II is the most slow-progressing form. Its usual prevalence is up to 6-7 in 100,000 and most of them are new mutations.…”

Section: Introductionmentioning

confidence: 99%

Gestational management of the patient with osteogenesis imperfecta: a case report

Durdağ¹,

Kalaycı²,

Şimşek³

et al. 2018

Perinatal J

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Osteogenezis imperfekta hastas›n›n gebelik yönetimi: Olgu sunumu Amaç: Osteogenezis imperfekta (O‹), kollajen sentezinin hatal› ol-du¤u bir genetik bozukluktur. ‹skelet anomalilerine, kemiklerde ve dokularda k›r›lganl›¤a sebep olmaktad›r. Bu olgu sunumunda çerçevesinde, O‹ hastas›n›n gebelik yönetimini sunmak ve karfl›lafl›labilecek komplikasyonlar› tart›flmak istedik. Olgu: Tip I O‹ tan›l› 36 yafl›ndaki hasta, spontan gebeli¤i olmas› üzerine merkezimizde takibe al›nd›. Hastada COL1A1 geninde mutasyon tespit edildi. Koryon villus örneklemesinden yap›lan analizde fetal karyotip ve COL1A1 geninin normal oldu¤u görüldü, obstetrik ultrasonografi incelemelerinde de patoloji izlenmedi. Gebelik haftas› ilerledikçe a¤r›, solunum s›k›nt›s› ve dispeptik flikayetleri artan hastaya 34. haftada amniyosentez yap›larak fetal akci-¤er matürasyonu de¤erlendirildi. 35. haftada sezaryen ile sa¤l›kl› bir bebek do¤urtuldu. Sonuç: Genetik yap›n›n aktar›lma endiflesi, anatomik deformite nedeniyle gebeli¤i tafl›man›n zorlu¤u, gebelik ve do¤um kompli-kasyonlar›n›n daha fazla görülebilmesi O‹'l› hastalardaki temel problemlerdir. Bu hastalara genetik dan›flmanl›k önerilmelidir ve takipleri multidisipliner yaklafl›mla yap›lmal›d›r.

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“…Limited information on the maternal skeletal outcome following pregnancy and lactation in women with OI is known; however, fractures and other complications have been reported . Currently, bisphosphonates (BPs) are the most widely prescribed antiresorptive for the treatment of metabolic bone diseases associated with excessive bone resorption .…”

Section: Introductionmentioning

confidence: 99%

Pamidronate Administration During Pregnancy and Lactation Induces Temporal Preservation of Maternal Bone Mass in a Mouse Model of Osteogenesis Imperfecta

Olvera

Stolzenfeld

Fisher

et al. 2019

Journal of Bone and Mineral Research

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During pregnancy and lactation, the maternal skeleton undergoes significant bone loss through increased resorption to provide the necessary calcium supply to the developing fetus and suckling neonate. This period of skeletal vulnerability has not been clearly associated with increased maternal fracture risk, but these physiological conditions can exacerbate an underlying metabolic bone condition like osteogenesis imperfecta. Although bisphosphonates (BPs) are commonly used in postmenopausal women, there are cases where premenopausal women taking BPs become pregnant. Given BPs’ long half‐life, there is a need to establish how BPs affect the maternal skeleton during periods of demanding metabolic bone changes that are critical for the skeletal development of their offspring. In the present study, pamidronate‐ (PAM‐) amplified pregnancy‐induced bone mass gains and lactation‐induced bone loss were prevented. This preservation of bone mass was less robust when PAM was administered at late stages of lactation compared with early pregnancy and first day of lactation. Pregnancy‐induced osteocyte osteolysis was also observed and was unaffected with PAM treatment. No negative skeletal effects were observed in offspring from PAM‐treated dams despite lactation‐induced bone loss prevention. These findings provide important insight into (1) a treatment window for when PAM is most effective in preserving maternal bone mass, and (2) the maternal changes in bone metabolism that maintain calcium homeostasis crucial for fetal and neonatal bone development. © 2019 American Society for Bone and Mineral Research

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Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice

Abstract: In conclusion, women affected by type I OI represent a subset of patients whose pregnancies should be considered high risk and warrant a multidisciplinary approach in a referral center.

Cited by 84 publications

References 40 publications

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

Gestational management of the patient with osteogenesis imperfecta: a case report

Pamidronate Administration During Pregnancy and Lactation Induces Temporal Preservation of Maternal Bone Mass in a Mouse Model of Osteogenesis Imperfecta

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