osteogenesis imperfecta type 10

Osteogenesis imperfecta (OI) type 10, also known as OI10, is a rare and severe form of the disorder.

• It is caused by loss-of-function codon variants in the gene SERPINH1 [2].
• This genetic mutation affects the production of heat shock protein 47, which plays a crucial role in collagen synthesis and bone formation.
• As a result, individuals with OI10 experience extremely fragile bones that are prone to fractures, even with minimal trauma [3][6].
• The condition is characterized by multiple bone deformities, generalized osteopenia (low bone mass), dentinogenesis imperfecta (defects in tooth development), and blue sclerae (a bluish discoloration of the whites of the eyes) [5].

It's essential to note that OI10 is an autosomal recessive form of the disorder, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to express the condition.

Osteogenesis imperfecta (OI) Type 10, also known as brittle bone disease, can manifest with a range of symptoms, varying in severity from mild to severe.

• Musculoskeletal issues: Individuals with OI Type 10 may experience muscle weakness, difficulty breathing, and other musculoskeletal problems [1].
• Bone deformities: The condition can cause bowing of the long bones, broad ribs, decreased calvarial ossification, and other bone-related abnormalities [2].
• Dentinogenesis imperfecta: This type of OI is associated with dentinogenesis imperfecta, a condition that affects tooth development [3].
• Generalized joint laxity: People with OI Type 10 may experience generalized joint laxity, which can lead to joint instability and other musculoskeletal issues [4].
• Pulmonary complications: In severe cases, OI Type 10 can cause pulmonary complications, such as respiratory failure [5].

It's essential to note that the severity of symptoms can vary significantly among individuals with OI Type 10. Some may experience mild symptoms, while others may have more severe manifestations of the condition.

References: [1] - #5 [2] - #2 [3] - #2 [4] - #2 [5] - #3

Osteogenesis imperfecta (OI) type 10, also known as brittle bone disease, can be diagnosed through various clinical and laboratory tests.

• Clinical Features: The diagnosis of OI type 10 is primarily based on the presence of characteristic clinical features such as fragile bones, blue sclerae, and hearing loss [1]. A thorough medical history and physical examination are essential in identifying these symptoms.
• Genetic Testing: Genetic testing can confirm the diagnosis of OI type 10 by identifying mutations in the SERPINH1 gene [2].
• Laboratory Tests: Laboratory tests such as blood tests and imaging studies may be ordered to rule out other conditions that may present with similar symptoms. For example, a bone density scan (DEXA) can be used to assess bone mineral density [3].
• Imaging Studies: Imaging studies such as X-rays, CT scans, or MRI may be used to evaluate the extent of bone involvement and detect any fractures or deformities [4].

It's worth noting that there is no commercially available diagnostic test for OI type 10, and diagnosis is often made based on family history associated with typical radiographic and clinical features [5]. A multidisciplinary approach involving a team of healthcare professionals, including geneticists, orthopedic surgeons, and other specialists, may be necessary to accurately diagnose and manage this condition.

References:

[1] Osteogenesis Imperfecta Test Guide (search result 2) [2] Clinical resource with information about Osteogenesis imperfecta type 10 and its clinical features, SERPINH1 (search result 1) [3] Imaging such as x-rays is usually suggested to check for fractures and bone changes. Bone density scans (DEXA) can be carried out on children weighing more than ... (search result 6) [4] Osteogenesis Imperfecta Type XI (FKBP10) ... A diagnosis of osteogenesis imperfecta ... (search result 7) [5] Diagnosis is made based on family history associated with typical radiographic and clinical features. No commercially available diagnostic test ... (search result 8)

Medications Used in Osteogenesis Imperfecta Type 10

Osteogenesis imperfecta (OI) type 10, also known as Bruck type, is a rare subtype of the condition. While there may not be specific studies on drug treatment for this particular type, the general approach to managing OI symptoms through medication can be applied.

Bisphosphonates: A Common Treatment Option

Bisphosphonates are widely used in treating moderate to severe osteogenesis imperfecta, including types other than 10. These medications work by preventing bone loss and increasing bone density (4). Bisphosphonates like pamidronate and zoledronic acid have been shown to be effective in relieving pain and improving bone health in individuals with OI (2, 5).

Other Medications: Denosumab and Growth Hormone

Denosumab is a medication approved for treating postmenopausal osteoporosis and other skeletal disorders in adults. Research on its use in children with OI is ongoing (7). Additionally, synthetic parathyroid hormone and growth hormone may be used in the treatment of OI, particularly in children (1).

Treatment Approach

The decision to initiate or alter drug therapy for osteogenesis imperfecta type 10 should be made in consultation with a healthcare provider. A multidisciplinary care approach, including physiotherapy, rehabilitation, bracing, and surgical interventions, is often necessary to manage the condition effectively (9).

While specific studies on OI type 10 may not exist, the general principles of treating osteogenesis imperfecta through medication can be applied. Bisphosphonates, denosumab, and other medications may be used to alleviate symptoms and improve bone health.

References:

1. [1] by M Botor · 2021 · Cited by 66 — Commonly used medications in OI treatment are bisphosphonates, Denosumab, synthetic parathyroid hormone and growth hormone for children therapy.
2. [2] Mar 18, 2024 — IV pamidronate is effective in babies and can be used to relieve pain in severe cases. Good evidence suggests that bisphosphonate therapy may ...
3. [5] The main medications used are called pamidronate and zoledronic acid. Both are a type of bisphosphonate, which is a medicine that prevents loss of bone mass.
4. [4] by SH Ralston · 2020 · Cited by 103 — Bisphosphonates have been widely used in the treatment of children and adults with OI. Although there is good evidence that they increase BMD, ...
5. [7] by JT Tauer · 2019 · Cited by 138 — Denosumab is approved for the treatment of postmenopausal osteoporosis and other skeletal disorders in adults. Studies in children with OI are being conducted.
6. [9] by AB Bourgeois · 2016 · Cited by 96 — Medical treatment consists of bone-remodelling drug therapy. Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta, ...

The differential diagnosis for osteogenesis imperfecta (OI) type 10 involves considering various conditions that may present with similar symptoms.

According to the search results, the differential diagnoses for OI include:

• Chondrodysplasia: This is a condition characterized by abnormal cartilage development and can be diagnosed in utero [1].
• Idiopathic juvenile osteoporosis: This is a rare condition that affects children and adolescents, causing bone thinning and fragility [2].
• Osteoporosis-pseudoglioma syndrome: This is a rare genetic disorder that affects the bones and eyes, and can be diagnosed in utero [2].

Additionally, the differential diagnosis for OI type 10 may also include:

• Suspected physical abuse (previously termed non-accidental injury or NAI): This is a condition where children are subjected to physical harm, which can cause similar symptoms to OI [6].
• Osteopenia of prematurity: This is a condition that affects premature infants and causes bone thinning and fragility [6].
• Osteomalacia: This is a condition characterized by softening of the bones due to vitamin D deficiency or other metabolic disorders [6].

It's worth noting that the differential diagnosis for OI type 10 may vary depending on the severity and presentation of the condition.

References:

[1] Mar 18, 2024 — This condition is characterized by low serum alkaline phosphatase levels and, in the severe recessive form, skin dimples overlying Bowdler spurs ... [2] Apr 29, 2024 — The differential diagnosis of osteogenesis imperfecta (OI) is broad and is very different for patients with severe forms of OI compared with ... [6] 4 days ago — Differential diagnosis · suspected physical abuse (previously termed non-accidental injury or NAI) · osteopenia of prematurity · osteomalacia.