autosomal recessive osteopetrosis 3

Autosomal Recessive Osteopetrosis 3 (ARO3), also known as OPTB3, is a rare genetic disorder characterized by abnormally dense bone due to defective resorption of immature bone [6]. This condition is caused by homozygous or compound heterozygous mutations in the CA2 gene [8].

The symptoms of ARO3 include increased bone density, which can lead to an increased risk of fractures and other bone-related complications. The disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

ARO3 is a severe form of osteopetrosis, with affected individuals often experiencing significant morbidity and mortality [1]. The disease can also be associated with other complications, such as renal tubular acidosis and neurological disorders [4].

In terms of bone density, ARO3 is characterized by an increased compactness and density of bone tissue, making it prone to breakage (fracture) [2]. This is due to the defective resorption of immature bone by osteoclasts, which are cells responsible for breaking down and reabsorbing bone tissue.

Overall, ARO3 is a rare and severe genetic disorder that affects bone density and can lead to significant complications.

Autosomal recessive osteopetrosis (ARO) type 3, also known as Guibaud-Vainsel syndrome or Marble brain disease, is a rare congenital disorder that affects the bone resorption process. The signs and symptoms of this condition become noticeable in childhood and include:

• Increased risk of bone fracture due to dense and brittle bones [12]
• Anemia, which can be severe and recurrent [8][9]
• Growth retardation [8]
• Deafness and blindness, which can occur due to the narrowing of cranial nerve foramina [13]
• Massive hepatosplenomegaly (enlargement of the liver and spleen) [8]

It's worth noting that the severity of these symptoms can vary depending on the individual case. In some cases, people with ARO type 3 may not experience all of these symptoms or they may be less severe.

References: [8] - Cited by 56 — They present with severe anemia, recurrent fractures, growth retardation, deafness, blindness and massive hepatosplenomegaly. [9] - May 10, 2021 — Clinical manifestations include dense and brittle bones, anemia and progressive nerve compression, which hamper the quality of patients' lives [12] - Autosomal recessive osteopetrosis type 3; Carbonic anhydrase 2 deficiency; Guibaud Vainsel syndrome; Marble brain disease; Osteopetrosis, ... [13] - Autosomal recessive “malignant” osteopetrosis is a rare congenital disorder of bone resorption. It is caused by the failure of osteoclasts to resorb immature bone.1-3 This leads to abnormal bone marrow cavity formation and clinically to the signs and symptoms of bone marrow failure. Impaired bone remodelling causes bony narrowing of the cranial nerve foramina which results in cranial nerve ...

Autosomal recessive osteopetrosis (ARO) can be diagnosed through a combination of physical features and molecular genetic testing.

Physical Features: Physical examination may reveal characteristic features such as dense sclerotic bones, fractures, and neurological symptoms. However, these features alone are not sufficient for diagnosis.

Molecular Genetic Testing: Molecular genetic testing is the most accurate method for diagnosing ARO. This involves analyzing the genes responsible for bone resorption and formation. The following tests can be used to diagnose ARO:

• Deletion/duplication analysis (103)
• Mutation scanning of the entire coding region (2)
• RNA analysis (1)
• Sequence analysis of select exons ...

These genetic tests can help identify mutations in the genes responsible for ARO, such as CLCN7, and confirm the diagnosis.

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Note: The information provided is based on search result 3.

Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized by defective osteoclast resorption or differentiation, leading to dense and brittle bones, anemia, and progressive nerve compression. The clinical manifestations of ARO can be life-threatening and often result in death within the first 10 years of age.

Treatment Options:

While there is no cure for autosomal recessive osteopetrosis, various treatment options are available to manage its symptoms and improve quality of life. These include:

• Bone marrow transplantation: This is a surgical procedure that involves replacing the patient's bone marrow with healthy bone marrow from a donor. It can help increase bone resorption and hematopoiesis.
• Hematopoietic stem cell transplantation: Similar to bone marrow transplantation, this procedure involves transplanting healthy hematopoietic stem cells into the patient's body to improve blood cell production.
• Interferon gamma therapy: This treatment has been shown to increase bone resorption and hematopoiesis in patients with osteopetrosis. However, its long-term effects are still being studied.
• Vitamin-D supplements: Vitamin D can help stimulate dormant osteoclasts, leading to increased bone resorption.
• Corticosteroids: Corticosteroids have been used to treat ARO by stimulating bone resorption and improving hematopoiesis.

Management:

The management of autosomal recessive osteopetrosis depends on the specific symptoms and severity of the disease. In some cases, no treatment may be necessary except in patients who present with surgical or medical complications. However, early intervention and aggressive treatment can significantly improve quality of life and survival rates for patients with ARO.

References:

• [10] Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.
• [11] Intermediate autosomal recessive osteopetrosis is the result of a loss of function mutation in CAII, the gene responsible for the production of the carbonic anhydrase II protein.
• [12] Autosomal Recessive Osteopetrosis (ARO) The autosomal recessive form of osteopetrosis (ARO), also known as infantile malignant osteopetrosis (IMO), has an incidence of 1:250000 live births, with higher rates in specific geographic areas because of geographic isolation, high frequency of parental consanguinity or the presence of a founder effect.

The differential diagnosis for autosomal recessive osteopetrosis (ARO) includes several conditions that can result in similar symptoms. Some of these conditions include:

• Autosomal dominant osteopetrosis
• Chronic renal failure
• Oxalosis
• Pyknodysostosis

These conditions can all present with similar bone-related symptoms, making it essential to conduct a thorough diagnostic evaluation to determine the correct underlying cause.

According to [4], autosomal dominant osteopetrosis is another form of osteopetrosis that can be distinguished from ARO by its mode of inheritance and clinical presentation. Chronic renal failure, oxalosis, and pyknodysostosis are all rare genetic disorders that can also affect bone health.

It's worth noting that a correct diagnosis of ARO requires a comprehensive evaluation of the patient's medical history, physical examination, and laboratory tests to rule out other potential causes of the symptoms.