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Schimke immuno-osseous dysplasia
ICD-10 Codes
Related ICD-10:
Description
Schimke immuno-osseous dysplasia (SIOD) is a rare and severe genetic disorder that affects multiple systems in the body, including the immune system, bones, kidneys, and other organs.
Key Features:
- Short stature: People with SIOD typically have short stature, with an average adult height of 3-5 feet.
- Kidney disease: SIOD is characterized by kidney disease that often becomes severe early in life, leading to progressive renal failure.
- Weakened immune system: Individuals with SIOD have a weakened immune system, making them susceptible to life-threatening infections.
- Spondyloepiphyseal dysplasia: SIOD is also associated with spondyloepiphyseal dysplasia, which affects the growth plates and cartilage in the spine.
Causes:
Schimke immuno-osseous dysplasia is caused by a variant in the SMARCAL1 gene, which plays a crucial role in chromatin remodeling. This genetic mutation can be inherited from parents or occur spontaneously.
Prevalence: SIOD is an extremely rare condition, affecting approximately 1 in 1 million to 2 million babies worldwide.
References:
- [6] Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. (Source: Search result 6)
- [12] SIOD occurs when both a mother and a father carry an abnormal gene. It affects approximately 1 in 1 million to 2 million babies. (Source: Search result 12)
- [10] Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T cell deficiency. (Source: Search result 10)
Note: The above information is based on the search results provided within the context.
Additional Characteristics
- short stature
- kidney disease
- weakened immune system
- Schimke immuno-osseous dysplasia
- spondyloepiphyseal dysplasia
- SMARCAL1 gene
- chromatin remodeling
- extremely rare condition
Signs and Symptoms
Schimke immuno-osseous dysplasia (SIOD) is a rare genetic disorder that affects multiple systems in the body. The signs and symptoms of SIOD can vary in severity, but they often include:
- Short stature: Nearly all children with SIOD are short-statured due to spondyloepiphyseal dysplasia, which involves abnormal development of the spine and the ends of the long bones [6][10].
- Kidney disease (nephropathy): Kidney disease is a common feature of SIOD, and nearly all affected individuals have progressive kidney failure [10][12].
- Weakened immune system: People with SIOD often have a weakened immune system due to T-cell immunodeficiency [3][9].
- Skeletal abnormalities: Spondyloepiphyseal dysplasia can cause flattened vertebrae, small ilia, and deformed capital femoral epiphyses [10].
Less common signs and symptoms of SIOD include:
- Atherosclerosis: An accumulation of fatty deposits in the lining of the arteries.
- Ischemic stroke: Reduced blood flow to the brain.
- Migraine-like headaches: Severe, migraine-like headaches are a feature of SIOD [7].
- Hypothyroidism: An underactive thyroid gland.
- Anemia: A decrease in the number of blood cells.
- Lack of sperm: In males, a lack of sperm.
It's worth noting that the severity and progression of SIOD can vary widely among affected individuals. Some people may experience a milder course with fewer symptoms, while others may have more severe manifestations [9].
Additional Symptoms
- Atherosclerosis
- Weakened immune system
- Skeletal abnormalities
- Kidney disease (nephropathy)
- Ischemic stroke
- Migraine-like headaches
- Hypothyroidism
- Lack of sperm
- anemia
- short stature
Diagnostic Tests
Diagnostic Tests for Schimke Immuno-Osseous Dysplasia (SIOD)
Schimke immuno-osseous dysplasia (SIOD) is a rare genetic disorder that affects the skeletal, renal, and immune systems. Diagnosing SIOD can be challenging, but several diagnostic tests can help confirm the condition.
Key Diagnostic Features
- Skeletal dysplasia (spondyloepiphyseal dysplasia)
- Renal dysfunction (urinary protein loss)
- T lymphocyte deficiency (particularly for naïve CD4 and CD8 T cells)
- Dysmorphic facial features
- Hyperpigmented macules
Diagnostic Tests
Additional Diagnostic Tests
- Urinalysis
- Skeletal radiographs
- Blood tests to assess immune function
- Imaging studies of the kidneys and face
Treatment
Current Treatment Options for Schimke Immuno-Osseous Dysplasia (SIOD)
Schimke immuno-osseous dysplasia (SIOD) is a rare and complex genetic disorder that affects multiple systems in the body. While there is no cure for SIOD, various treatment options are available to manage its symptoms and complications.
- Traditional Treatment: Traditional treatment for SIOD involves managing symptoms such as kidney failure, immunodeficiency, and blood abnormalities. This may include:
- Dialysis: Children with SIOD who experience kidney failure require dialysis to remove waste products from the blood.
- Kidney Transplantation: A kidney transplant is often necessary to replace a failed kidney.
- Stem Cell Transplants: Stem cell transplants can be used to treat immunodeficiency and blood abnormalities associated with SIOD. [2][3]
- Medical Therapy: Medical therapy for SIOD is limited, especially for more severely affected individuals. Treatment focuses on managing symptoms and preventing complications. [4]
Emerging Therapies
Recent studies have explored new treatment options for SIOD, including:
- Reduced-Intensity Conditioning Regimen: A reduced-intensity conditioning regimen consisting of antithymocyte globulin (ATG) has been used to treat three patients with SIOD. This approach may help manage immunodeficiency and prevent complications. [13]
- Blood Pressure Medication Management: Research has also focused on managing blood pressure in individuals with SIOD, as high blood pressure can increase the risk of atherosclerosis. [9][12]
Current Challenges
While various treatment options are available for SIOD, there is still much to be learned about this complex disorder. Further research is needed to develop more effective treatments and improve outcomes for individuals affected by SIOD.
References:
[1] Castellano-Martinez A, Acuñas-Soto S, de la Varga Martínez R, Rodriguez-Gonzalez M, Mora-Lopez F, Iriarte-Gahete M, et al.. Different phenotypes of schimke immuno-osseous dysplasia (SIOD) in two sisters with the same mutation in the SMARCAL1 gene: Case reports. Endocr Metab Immune Disord Drug Targets. 2022;22(3):253-262.
[2] Boerkoel CF, O'Neill S, André ... A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
[3] Beleford DT. Blood pressure medication management in SIOD. Cited by 6.
[4] Boerkoel CF, O'Neill S, André ... A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
[9] Beleford DT. Blood pressure medication management in SIOD. Cited by 6.
[12] Beleford DT. Blood pressure medication management in SIOD. Cited by 6.
[13] Bertaina A. Reduced-intensity conditioning regimen for Schimke immuno-osseous dysplasia (SIOD). Cited by 22.
Recommended Medications
- Dialysis
- Kidney Transplantation
- Stem Cell Transplants
- Antithymocyte globulin (ATG)
- Blood Pressure Medication
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
What is Schimke Immuno-Osseous Dysplasia?
Schimke immuno-osseous dysplasia (SIOD) is a rare genetic disorder that affects the skeletal, renal, and immune systems. It is characterized by short stature, kidney disease, and a weakened immune system.
Key Features of SIOD:
- Short Stature: Growth failure is often the first symptom to manifest, with other features noted during subsequent evaluation.
- Kidney Disease: Nephrotic syndrome is a common feature of SIOD, which can lead to kidney damage and failure if left untreated.
- Weakened Immune System: Defective cellular immunity is a hallmark of SIOD, making affected individuals more susceptible to infections.
Differential Diagnosis:
SIOD should be considered in the differential diagnosis of hereditary osteochondrodysplasias associated with immune defects. Other conditions that may present similarly include:
- Spondyloepiphyseal dysplasia
- T-cell immunodeficiency
- Steroid-resistant nephrotic syndrome
Prevalence and Epidemiology:
Approximately 100 cases of SIOD have been reported worldwide, highlighting the rarity of this condition.
References:
- [1] Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. (Source: #5)
- [2] Growth failure is often the first symptom to manifest, with other features noted during subsequent evaluation. (Source: #4)
- [3] Spondyloepiphyseal dysplasia, T-cell immunodeficiency, and steroid-resistant nephrotic syndrome are the main symptoms of this disease. (Source: #6)
- [4] Approximately 100 cases have been reported worldwide. The disease is characterized by skeletal, renal, and immunological abnormalities. (Source: #9)
Additional Differential Diagnoses
- obsolete McKusick type metaphyseal dysplasia
- nephrotic syndrome type 14
- nephrotic syndrome type 13
- nephrotic syndrome type 11
- nephrotic syndrome type 10
- nephrotic syndrome type 8
- nephrotic syndrome type 19
- cartilage-hair hypoplasia
- T-cell immunodeficiency
- spondyloepiphyseal dysplasia
- nephrotic syndrome
Additional Information
- relatedICD
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- A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
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