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autosomal recessive disease
ICD-10 Codes
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Description
Autosomal recessive diseases are a type of genetic disorder that occurs when an individual inherits two copies of an abnormal gene, one from each parent. This pattern of inheritance is characterized by the fact that the gene in question is located on one of the non-sex chromosomes (autosomes), as opposed to sex-linked genes which are found on the X or Y chromosome.
Key Features:
- Inheritance: Autosomal recessive diseases require two copies of an abnormal gene, one from each parent, for the disease or trait to develop.
- Gene Location: The gene responsible for the disease is located on a non-sex chromosome (autosome).
- Expression: The disease or trait will only be expressed if an individual inherits two copies of the abnormal gene.
Examples:
- Cystic fibrosis
- Sickle cell anemia
- Tay-Sachs disease
These diseases are caused by mutations in genes that code for essential proteins, leading to impaired cellular function and ultimately, the manifestation of the disease. The severity and impact of autosomal recessive diseases can vary greatly depending on the specific gene involved and the individual's overall health.
Important Considerations:
- Genetic Counseling: Individuals with a family history of autosomal recessive diseases may benefit from genetic counseling to understand their risk of inheriting or passing on the disease.
- Early Detection: Early detection and diagnosis are crucial for effective management and treatment of autosomal recessive diseases.
References:
[1] - Autosomal pattern of inheritance occurs in families affected with a genetic disease whose gene is not on a sex chromosome. (Source: [6]) [2] An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. (Sources: [3], [9], [10]) [3] Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. (Source: [5])
Additional Characteristics
- Cystic fibrosis
- Tay-Sachs disease
- Autosomal recessive diseases are a type of genetic disorder that occurs when an individual inherits two copies of an abnormal gene, one from each parent.
- Sickle cell anemia
Signs and Symptoms
Autosomal recessive diseases are genetic disorders that occur when an individual inherits two copies of a mutated gene, one from each parent. The symptoms of these diseases can vary depending on the specific condition, but here are some common signs and symptoms:
- Failure to thrive: This is a general term used to describe infants or children who do not gain weight or grow at a normal rate [8].
- Recurrent pulmonary infections: People with autosomal recessive disorders may be more prone to respiratory problems, such as pneumonia or bronchitis [8].
- Excessive peeing and thirst: Some individuals may experience increased urination and thirst due to the body's inability to properly regulate fluids [4].
- Dry mouth and lips: This can be a sign of dehydration or electrolyte imbalances [4].
- Sunken features (particularly the eyes): This is often seen in infants or young children with severe cases of autosomal recessive disorders [4].
- Headaches, dizziness, and irritability: These symptoms can occur due to various factors, including anemia, seizures, or brain damage [1].
It's essential to note that not all individuals with autosomal recessive diseases will exhibit these symptoms. The severity and presentation of the disease can vary greatly from person to person.
References: [1] - 1. May 23, 2023 — An enlarged liver and spleen, as well as anemia, are common. Some people also have seizures and brain damage. The most severe type causes ... [4] - Excessive peeing and thirst · a dry mouth and lips · sunken features (particularly the eyes) · headaches · dizziness · irritability. [8] - Babies with this disorder often cannot hold their heads up, may have dementia, a startled response, blindness, and even early death.[8] This is most prevalent ...
Additional Symptoms
- Recurrent pulmonary infections
- Excessive peeing and thirst
- Sunken features (particularly the eyes)
- Headaches, dizziness, and irritability
- failure to thrive
- dry mouth
Diagnostic Tests
Autosomal recessive diseases are genetic disorders that occur when an individual inherits two copies of a mutated gene, one from each parent. Diagnostic tests for these conditions aim to identify the presence of the mutated genes in an individual or couple.
Types of Diagnostic Tests
- Carrier testing: This test identifies if an individual carries a copy of the mutated gene for an autosomal recessive disease. [6]
- Genetic testing: This involves examining an individual's DNA to identify changes to their genes, chromosomes, or proteins that may cause genetic conditions. [7][8]
How Diagnostic Tests Work
- Genetic testing involves analyzing an individual's DNA to locate mutated genes that cause autosomal recessive diseases.
- Carrier testing can tell you if you carry a copy of a mutated gene for an autosomal recessive disease, which can help identify couples at risk of having offspring with the condition.
Importance of Diagnostic Tests
- Identifying carriers and individuals with autosomal recessive diseases can help prevent the transmission of these conditions to future generations.
- Early diagnosis and genetic counseling can provide valuable information for families affected by these conditions.
Sources:
- Carrier testing can tell you if you carry a copy of a mutated gene for an autosomal recessive disease. [6]
- Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. [7]
- A genetic test identifies changes to your genes, chromosomes or proteins. Genetic testing can locate mutated genes that cause genetic conditions. These tests are used to diagnose and identify carriers of autosomal recessive diseases. [8]
Additional Diagnostic Tests
- Genetic testing
- Carrier testing
Treatment
Autosomal recessive diseases are genetic disorders that occur when an individual inherits two copies of a mutated gene, one from each parent. While there is no cure for these diseases, various treatments can help manage symptoms and improve quality of life.
Gene Therapies
Recently, new gene therapies have been approved to treat autosomal recessive diseases [8]. These treatments aim to replace or correct the faulty gene responsible for the disease. For example, Luxturna, Zolgensma, Strimvelis, and Lyfgenia are four treatments that have been approved for use in treating certain autosomal recessive disorders [4].
Topical Treatments
Topical treatments are often a first-choice strategy due to their ease of application and cost [5]. However, enteral administration of retinoids offers an alternative approach. This method involves delivering the treatment directly into the body through the digestive system.
Other Therapies
In addition to gene therapies and topical treatments, other therapies may be used to manage symptoms associated with autosomal recessive diseases. For example, ACE inhibitors are commonly used to treat high blood pressure in children [3].
Importance of Early Detection
Early detection is crucial for managing autosomal recessive diseases effectively. Testing can show if an individual or their child is at risk of developing the disease [7]. This allows for early intervention and treatment, which can significantly improve outcomes.
Current Research and Development
Researchers are continually working to develop new treatments and therapies for autosomal recessive diseases. For instance, a session on drug development in ARPKD was held during the 2021 PKD Regulatory Summit, highlighting key aspects discussed [9].
References:
[3] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure.
[4] Four treatments are now approved, i.e., Luxturna™, Zolgensma™, Strimvelis™, and Lyfgenia™ while dozens of other treatments are under clinical development.
[5] Topical treatments are a first-choice strategy due to their ease of application and cost; however, enteral administration of retinoids offers an alternative approach.
[7] Some diseases are passed down through families by mutated genes. Testing can show if your child is at risk.
[8] Recently, new gene therapies have been approved to treat autosomal recessive diseases.
[9] A session on drug development in ARPKD was held during the 2021 PKD Regulatory Summit, highlighting key aspects discussed.
Recommended Medications
- ACE inhibitors
- Luxturna
- Zolgensma
- Strimvelis
- Lyfgenia
💊 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
Understanding Differential Diagnosis
Differential diagnosis refers to the process of identifying and ruling out other possible causes of a condition or disease, in order to arrive at an accurate diagnosis.
Autosomal Recessive Diseases: Key Considerations
In the context of autosomal recessive diseases, differential diagnosis is crucial for distinguishing between various conditions that may present with similar symptoms. Some key considerations include:
- Genetic disorders: Autosomal recessive diseases are caused by mutations in specific genes, leading to a range of symptoms and complications.
- Kidney diseases: Conditions such as autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) can present with similar symptoms, making differential diagnosis essential.
- Other congenital myopathies: Myotonic dystrophy and facioscapulohumeral dystrophy are two conditions that may be considered in the differential diagnosis of autosomal recessive diseases.
Common Differential Diagnoses
Some common differential diagnoses for autosomal recessive diseases include:
- Autosomal dominant polycystic kidney disease (ADPKD)
- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
- Myotonic dystrophy
- Facioscapulohumeral dystrophy
Importance of Accurate Diagnosis
Accurate diagnosis is critical for determining the best course of treatment and management for individuals with autosomal recessive diseases. Differential diagnosis plays a vital role in this process, allowing healthcare professionals to rule out other possible causes and arrive at an accurate diagnosis.
References:
- [1] - A differential diagnosis with other conditions can be made on the basis of marked autofluorescence changes in combination with an absent light ...
- [3] - Main differential diagnoses are other hereditary cystic kidney diseases including autosomal dominant polycystic kidney disease, HNF1beta-associated cystic ...
- [6] - Differential diagnosis – The differential diagnosis of ARPKD includes other renal cystic disorders and hepatobiliary diseases. ARPKD is ...
- [8] - The main differential diagnoses include other congenital myopathies, myotonic dystrophy and, if facial involvement is prominent, facioscapulohumeral dystrophy.
- [9] - Simple kidney cysts. Autosomal recessive polycystic kidney disease (ARPKD). Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps ...
Additional Differential Diagnoses
- Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps
- Facioscapulohumeral Dystrophy
- myotonic dystrophy type 2
- autosomal dominant polycystic kidney disease
Additional Information
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- An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
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