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  • Osteogenesis Imperfecta Case Presentation

    Transféré par

    Christian Micallef
    364 vues18 pages
    Joey, a six year old boy with Osteogenesis Imperfecta Type VIII, presented to the emergency department with his mother after hitting his left thigh off a table while driving his electric wheelchair. The main aims of this essay are to get a better understanding of: • Osteogenesis Imperfecta (O.I.) as a condition; • Management of fractures in children with O.I. and • Nursing care of the child with O.I. and his/her family. I have chosen this particular case study as in my practice as an emergency nurse for the last nine years I had never cared for a child/client with such a severe form of O.I. Hence I felt the need to learn more about the condition and the nursing care of children with O.I. who present to the emergency department with a fracture(s) – which is one of the most common complain secondary to O.I. Osteogenesis Imperfecta comprises a heterogeneous group of genetic disorders characterised by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity (Forin, 2010; National Centre for Medical Genetics, 2012). Prevalence is estimated at between 1:10,000 and 1:20,000 (Forin, 2010). It is estimated that in the UK it is around 1:15,000 (Brittle Bone Society, 2012). O.I. has been recognised in an Egyptian mummy dating from 1000BC. Ivan the Boneless, 9th century Denmark – according to legend he was carried into battle on a shield because he was unable to walk on his soft legs. Medical literature dating back to the 1600s shows case studies of fragile bones and hearing loss. W. Vrolik came up with the term “Osteogenesis Imperfecta” in 1849 and E. Looser divided the condition into “congenital” and “tarda” in 1906. In 1918, Van der Hoeve described the occurrence of fragile bones, in combination with blue sclera and early deafness as a distinct inherited syndrome (Osteogenesis Imperfecta Foundation, 2012). It was only in the 1970s that Dr. David Sillence developed the four classification system (Type I, II, III and IV) which is still in use today (Osteogenesis Imperfecta Foundation, 2012). The system has been further developed and Types V, VI, VII and VIII added to it by Glorieux and Rauch (Farooq, 2010). Farooq (2010) defined the types as: Type I – mild, Type II – perinatal lethal, Type III – progressive deforming, Type IV – moderate severe, Type V – similar to Type IV with dominant inheritance pattern, Type VI – similar to Type IV (distinguished by a characteristic mineralization defect seen in biopsied bone) and Types VII & VIII – recessive types (recently identified, fewer than 10% of all cases). For the purpose of this essay O.I. Type VIII will be defined in more detail. OI is caused by a mutation in either of the type 1 collagen genes and is inherited in an autosomal dominant fashion. Type 1 (pro) collagen is the major extracellular matrix protein of bone and skin. A unique loss of function mutation c.232delC in the LEPRE1/p3H1 gene (OMIM #601905) was identified in the Irish Traveller population (Cabra et al, 2007 cited in National Centre for Medical Genetics, 2012). Type VIII O.I. has a variable phenotype from perinatal lethal to surviving phenotypes. Children from the Travelling community with O.I. Type VIII are homozygous for this c.232delC LEPRE1/P3H1 deletion and it is testing for this specific pathogenic mutation that forms the basis of the service offered (National Centre for Medical Genetics, 2012). In Ireland, there are currently no association and/or support groups specific to people with O.I. However, there is a Facebook page “Osteogenesis Imperfecta Ireland”. There is a charity in the UK, “Brittle Bone Society” – founded in Dundee in 1968 - the only UK wide organization providing support to people affected by the bone condition Osteogenesis Imperfecta (Brittle Bone Society, 2012). In the USA, the “Osteogenesis Imperfecta Foundation” – established in 1970 – the mission of the foundation is to fund research, education, raise awarene

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    Joey, a six year old boy with Osteogenesis Imperfecta Type VIII, presented to the emergency department with his mother after hitting his left thigh off a table while driving his electric wheelchair. The main aims of this essay are to get a better understanding of: • Osteogenesis Imperfecta (O.I.) as a condition; • Management of fractures in children with O.I. and • Nursing care of the child with O.I. and his/her family. I have chosen this particular case study as in my practice as an emergency nurse for the last nine years I had never cared for a child/client with such a severe form of O.I. Hence I felt the need to learn more about the condition and the nursing care of children with O.I. who present to the emergency department with a fracture(s) – which is one of the most common complain secondary to O.I. Osteogenesis Imperfecta comprises a heterogeneous group of genetic disorders characterised by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity (Forin, 2010; National Centre for Medical Genetics, 2012). Prevalence is estimated at between 1:10,000 and 1:20,000 (Forin, 2010). It is estimated that in the UK it is around 1:15,000 (Brittle Bone Society, 2012). O.I. has been recognised in an Egyptian mummy dating from 1000BC. Ivan the Boneless, 9th century Denmark – according to legend he was carried into battle on a shield because he was unable to walk on his soft legs. Medical literature dating back to the 1600s shows case studies of fragile bones and hearing loss. W. Vrolik came up with the term “Osteogenesis Imperfecta” in 1849 and E. Looser divided the condition into “congenital” and “tarda” in 1906. In 1918, Van der Hoeve described the occurrence of fragile bones, in combination with blue sclera and early deafness as a distinct inherited syndrome (Osteogenesis Imperfecta Foundation, 2012). It was only in the 1970s that Dr. David Sillence developed the four classification system (Type I, II, III and IV) which is still in use today (Osteogenesis Imperfecta Foundation, 2012). The system has been further developed and Types V, VI, VII and VIII added to it by Glorieux and Rauch (Farooq, 2010). Farooq (2010) defined the types as: Type I – mild, Type II – perinatal lethal, Type III – progressive deforming, Type IV – moderate severe, Type V – similar to Type IV with dominant inheritance pattern, Type VI – similar to Type IV (distinguished by a characteristic mineralization defect seen in biopsied bone) and Types VII & VIII – recessive types (recently identified, fewer than 10% of all cases). For the purpose of this essay O.I. Type VIII will be defined in more detail. OI is caused by a mutation in either of the type 1 collagen genes and is inherited in an autosomal dominant fashion. Type 1 (pro) collagen is the major extracellular matrix protein of bone and skin. A unique loss of function mutation c.232delC in the LEPRE1/p3H1 gene (OMIM #601905) was identified in the Irish Traveller population (Cabra et al, 2007 cited in National Centre for Medical Genetics, 2012). Type VIII O.I. has a variable phenotype from perinatal lethal to surviving phenotypes. Children from the Travelling community with O.I. Type VIII are homozygous for this c.232delC LEPRE1/P3H1 deletion and it is testing for this specific pathogenic mutation that forms the basis of the service offered (National Centre for Medical Genetics, 2012). In Ireland, there are currently no association and/or support groups specific to people with O.I. However, there is a Facebook page “Osteogenesis Imperfecta Ireland”. There is a charity in the UK, “Brittle Bone Society” – founded in Dundee in 1968 - the only UK wide organization providing support to people affected by the bone condition Osteogenesis Imperfecta (Brittle Bone Society, 2012). In the USA, the “Osteogenesis Imperfecta Foundation” – established in 1970 – the mission of the foundation is to fund research, education, raise awarene

    Droits d'auteur :

    © All Rights Reserved
    Téléchargez comme PPT, PDF, TXT ou lisez en ligne sur Scribd
    Signaler comme contenu inapproprié
    364 vues18 pages

    Osteogenesis Imperfecta Case Presentation

    Transféré par

    Christian Micallef
    Joey, a six year old boy with Osteogenesis Imperfecta Type VIII, presented to the emergency department with his mother after hitting his left thigh off a table while driving his electric wheelchair. The main aims of this essay are to get a better understanding of: • Osteogenesis Imperfecta (O.I.) as a condition; • Management of fractures in children with O.I. and • Nursing care of the child with O.I. and his/her family. I have chosen this particular case study as in my practice as an emergency nurse for the last nine years I had never cared for a child/client with such a severe form of O.I. Hence I felt the need to learn more about the condition and the nursing care of children with O.I. who present to the emergency department with a fracture(s) – which is one of the most common complain secondary to O.I. Osteogenesis Imperfecta comprises a heterogeneous group of genetic disorders characterised by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity (Forin, 2010; National Centre for Medical Genetics, 2012). Prevalence is estimated at between 1:10,000 and 1:20,000 (Forin, 2010). It is estimated that in the UK it is around 1:15,000 (Brittle Bone Society, 2012). O.I. has been recognised in an Egyptian mummy dating from 1000BC. Ivan the Boneless, 9th century Denmark – according to legend he was carried into battle on a shield because he was unable to walk on his soft legs. Medical literature dating back to the 1600s shows case studies of fragile bones and hearing loss. W. Vrolik came up with the term “Osteogenesis Imperfecta” in 1849 and E. Looser divided the condition into “congenital” and “tarda” in 1906. In 1918, Van der Hoeve described the occurrence of fragile bones, in combination with blue sclera and early deafness as a distinct inherited syndrome (Osteogenesis Imperfecta Foundation, 2012). It was only in the 1970s that Dr. David Sillence developed the four classification system (Type I, II, III and IV) which is still in use today (Osteogenesis Imperfecta Foundation, 2012). The system has been further developed and Types V, VI, VII and VIII added to it by Glorieux and Rauch (Farooq, 2010). Farooq (2010) defined the types as: Type I – mild, Type II – perinatal lethal, Type III – progressive deforming, Type IV – moderate severe, Type V – similar to Type IV with dominant inheritance pattern, Type VI – similar to Type IV (distinguished by a characteristic mineralization defect seen in biopsied bone) and Types VII & VIII – recessive types (recently identified, fewer than 10% of all cases). For the purpose of this essay O.I. Type VIII will be defined in more detail. OI is caused by a mutation in either of the type 1 collagen genes and is inherited in an autosomal dominant fashion. Type 1 (pro) collagen is the major extracellular matrix protein of bone and skin. A unique loss of function mutation c.232delC in the LEPRE1/p3H1 gene (OMIM #601905) was identified in the Irish Traveller population (Cabra et al, 2007 cited in National Centre for Medical Genetics, 2012). Type VIII O.I. has a variable phenotype from perinatal lethal to surviving phenotypes. Children from the Travelling community with O.I. Type VIII are homozygous for this c.232delC LEPRE1/P3H1 deletion and it is testing for this specific pathogenic mutation that forms the basis of the service offered (National Centre for Medical Genetics, 2012). In Ireland, there are currently no association and/or support groups specific to people with O.I. However, there is a Facebook page “Osteogenesis Imperfecta Ireland”. There is a charity in the UK, “Brittle Bone Society” – founded in Dundee in 1968 - the only UK wide organization providing support to people affected by the bone condition Osteogenesis Imperfecta (Brittle Bone Society, 2012). In the USA, the “Osteogenesis Imperfecta Foundation” – established in 1970 – the mission of the foundation is to fund research, education, raise awarene

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    sur 18

    OSTEOGENESIS

    IMPERFECTA
    Management of fractures
    and nursing care


    Christian Micallef
    11
    th
    April 2012
    Case Presentation
    Joey, a six year old boy with Osteogenesis
    Imperfecta Type VIII - presented to the
    emergency department, accompanied by his
    mother, after hitting his left thigh off a table
    while driving his electric wheelchair.
    Main Aims
    To get a better understanding of:
    Osteogenesis Imperfecta (O.I.) as a condition
    Management of fractures in children with O.I.
    Nursing care of the child with O.I. and his/her
    family
    Definition
    O.I. comprises a heterogenous group of genetic
    disorders characterized by increased bone
    fragility, low bone mass, and susceptibility to
    bone fractures with variable severity (Forin,
    2010; National Centre for Medical Genetics,
    2012)
    UK: 1:15,000 (Brittle Bone Society, 2012)
    History
    1000BC Egyptian mummy
    9
    th
    Century Denmark Ivan the Boneless
    1600s Medical Literature (case studies)
    1849 Termed Osteogenesis Imperfecta
    1906 Divided into congenita and tarda
    1918 inherited syndrome (fragile bones, blue sclera
    and early deafness)
    1970s Classification System Type I, II, III and IV
    (David Sillence)
    Present addition of Type V, VI, VII and VIII
    (Glorieux and Rauch)
    Classification
    Type I mild
    Type II perinatal lethal
    Type III progressive deforming
    Type IV moderate severe
    Type V similar to Type IV (with dominant
    inheritance pattern)
    Type VI similar to Type IV (characteristic
    mineralization defect seen in biopsied bone)
    Type VII and VIII recessive types (recently identified,
    less than 10% of all cases)
    O.I. Type VIII
    O.I. mutation in either one of the type 1
    collagen genes and inherited in an autosomal
    dominant fashion
    Unique loss of function mutation c.232delC in
    the LEPRE1/p3H1 gene was identified in the
    Irish Traveller population (Cabra et al, 2007)
    Children from the Travelling community with
    Type VIII O.I. are homozygous for this deletion
    (National Centre for Medical Genetics, 2012)
    O.I. Support Groups
    Ireland - Facebook Page Osteogenesis
    Imperfecta Ireland
    UK Brittle Bone Society (founded in 1968
    in Dundee)
    USA Osteogenesis Imperfecta Foundation
    (established in 1970)


    The Nursing Process
    APIE - created by Ida Jean Orlando (1958)
    The Modified Nursing Process:
    Assessment
    Diagnosis
    Plan
    Implementation
    Evaluation

    Assessment
    Triage use of structured approach (ALSG,
    2011)
    ABC normal
    D electric wheelchair to mobilize (restricted to
    same)
    E Pain (Score of 3) to left thigh area, slight
    swelling noted no analgesia given prior to
    attendance
    Diagnosis
    Nursing Diagnosis Possible fracture to the left
    femur
    Plan
    Comfort Pain Management (Joey refused
    analgesia at triage)
    Triaged at Category 2
    Seen by one of the a&e consultants:
    Possible fractured femur (x-ray)
    If fractured, provide treatment as required
    Nursing Care and Discharge Planning

    Intervention
    X-Ray undisplaced fracture of the left femoral shaft
    Review by orthopaedic surgeons surgery not
    advisable treated with a single leg spica (works well in
    88-95% of stable fractures) Kanlic and Cruz (2007)
    Support in the community already established
    Follow up in the fracture clinic arranged
    Discharged home with advise regarding pain
    management, care of spica and signs & symptoms to
    look out for given
    Evaluation
    Time elapsed between registration and discharge was 90
    minutes
    Adequate communication with Joey and his mother -
    step by step explanation of the care plan was given
    Specialists were consulted as required and the most
    appropriate care/treatment provided
    Analgesia was offered several times and refused
    Support available in the community already established
    -both Joey and his mother seemed to be satisfied with
    the service they were receiving
    Re-Evaluation
    To cast or to splint?
    The application of a cast causes decreased
    mobility and increases the likelihood of
    osteoporosis.
    Many physicians limit casting in children with
    O.I. as much as possible and will often apply a
    splint and wrap the area with an elastic bandage
    instead (Osteogenesis Imperfecta Foundation,
    2012)
    Current Treatment and Hopes for
    the Future
    No cure for O.I.
    Proper medical and orthopaedic management of the symptoms
    Sofield Osteomy indicated for O.I. patients with repetitive
    fractures or progressive angular deformity in a weightbearing
    bone (Li et al, 2000)
    Ireland study by Aravindan et al (2003) - Sheffield telescoping
    intramedullary rod system
    Studies in progress:
    Bone and Vibration Treatment Study
    O.I. Nutrition Study
    Bisophosphonates
    References
    Advanced Life Support Group, ALSG (2011) Paediatric Advanced Life Support The Practical
    Approach 5th Edition. West Sussex: Wiley-Blackwell.
    Aravindan S., Kennedy J.G., McGuinness A.J. and Taylor T. (2003) Sheffield Telescoping
    Intramedullary Rod System in Osteogenesis Imperfecta An all Ireland Study. Journal of Bone and
    Joint Surgery British Volume, 85B(2), pp. 138.
    Brittle Bone Society (2012) Available online at www.brittlebone.org (Accessed on 21st March
    2012).
    Farooq S. (2010) Osteogenesis Imperfecta Classification, Available Online at
    www.radiopaedia.org (Accessed on 20th March 2012).
    Forin V. (2010) Osteogenesis Imperfecta, Available Online at www.orpha.net (Accessed on 20th
    March 2012).
    Kanlic E. and Cruz M. (2007) Current Concepts in Paediatric Femur Fracture Treatment.
    Orthopaedics, 30(12), pp. 1015.
    Li Y.H., Chow W. and Leong J.C. (2000) The Sofield-Millar Operation in Osteogenesis
    Imperfecta A Modified Technique. Journal of Bone and Joint Surgery British Volume, 82(1),
    pp. 11-16.
    National Centre for Medical Genetics (2012) Osteogenesis Imperfecta Type VIII(LEPRE1/P3H1
    gene), OMIM #601905, Available Online at www.genetics.ie (Accessed on 21st March 2012).
    Osteogenesis Imperfecta Foundation (2012) Available online at www.oif.org (Accessed on 21st
    March 2012).



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