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autosomal dominant disease
ICD-10 Codes
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Description
Autosomal dominant diseases are genetic disorders that manifest when an individual inherits at least one dominant allele (A) for a disorder gene [4]. This means that if you get the variant gene from only one parent, you can get the disease. Often, one of the parents may also have the disease [3][6][9].
In autosomal dominant diseases, the changed gene is a dominant gene located on one of the nonsex chromosomes, called autosomes [8]. This type of inheritance pattern is characterized by the fact that only one copy of a mutated gene is needed to cause the disease [7].
Here are some key points about autosomal dominant diseases:
- Inheritance: Autosomal dominant diseases are inherited in an autosomal dominant manner, meaning that if one parent carries the mutated gene, there is a 50% chance that each child will inherit it.
- Expression: The disease can manifest at any age, and its severity can vary greatly from person to person.
- Genetic basis: Autosomal dominant diseases are caused by mutations in genes located on autosomes (nonsex chromosomes).
- Family history: A family history of the disease is often present, as one or more relatives may also have the condition.
Examples of autosomal dominant diseases include:
- Marfan syndrome
- Neurofibromatosis type 1
- Huntington's disease
- Familial hypercholesterolemia
It's essential to note that each individual with an autosomal dominant disease has a unique genetic makeup, and the expression of the disease can vary greatly from person to person.
Additional Characteristics
- Familial hypercholesterolemia
- Huntington's disease
- Marfan syndrome
- Neurofibromatosis type 1
Signs and Symptoms
Autosomal dominant diseases are characterized by a wide range of signs and symptoms, which can vary depending on the specific disorder. Here are some common warning signs and symptoms associated with autosomal dominant diseases:
- Pain in the side or back: This is one of the most common warning signs of autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder that causes cysts to form on the kidneys [7].
- Headaches: Some people with ADPKD may experience headaches, which can be severe and frequent [7].
- Blood in the urine: This is another common symptom of ADPKD, where blood appears in the urine due to the formation of cysts on the kidneys [9].
- Abdominal pain: People with autosomal dominant disorders may also experience abdominal pain, which can range from mild to severe [3].
- Uncoordinated walk (gait): The hereditary ataxias, a group of autosomal dominant diseases, are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk [6].
Other associated features of autosomal dominant disorders include:
- Hypoplasia of the tarsal plate: This is a condition where the tarsal plate, a part of the foot, does not develop properly.
- Prominent vertical brow hair: Some people with autosomal dominant disorders may have prominent vertical brow hair.
- Flat brow: A flat brow can also be associated with autosomal dominant disorders.
- Female infertility: Female infertility is another feature that has been linked to some autosomal dominant diseases.
It's essential to note that not everyone with an autosomal dominant disease will experience all of these symptoms, and the severity of the symptoms can vary widely from person to person. If you suspect that you or a family member may have an autosomal dominant disorder, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.
References: [1] Autosomal dominant traits pass from one parent onto their child. Autosomal recessive traits pass from both parents onto their child. [3] Mar 31, 2024 — Autosomal dominant is one of many ways that a genetic trait or disorder can be passed down through families.
Additional Symptoms
- Female infertility
- Headaches
- Blood in the urine
- Hypoplasia of the tarsal plate
- Prominent vertical brow hair
- Flat brow
- abdominal pain
- pain
- uncoordinated gait
Diagnostic Tests
Autosomal dominant diseases are genetic disorders that can be inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. Diagnostic tests for autosomal dominant diseases typically involve identifying the presence of the mutated gene or its effects on the body.
Types of diagnostic tests:
- Genetic testing: This involves examining DNA samples from individuals to identify mutations in specific genes associated with autosomal dominant diseases [6]. Genetic testing can be done through various methods, including next-generation sequencing [7].
- Imaging studies: These are used to visualize the effects of the disease on the body. For example, ultrasound scans, CT scans, and MRI scans may be used to diagnose conditions like autosomal dominant polycystic kidney disease (ADPKD) [4][5].
Specific diagnostic tests:
- Urine tests: These can help identify abnormalities in urine that are associated with certain autosomal dominant diseases.
- Specialized blood tests: These can detect specific biomarkers or mutations in the blood that are indicative of autosomal dominant conditions.
- Gene panel testing: This involves examining DNA samples for variants in multiple genes associated with autosomal dominant diseases [9].
Family history and genetic testing:
- If someone is diagnosed with an autosomal dominant disease, their parents should also be tested for the variant gene to determine if they are carriers or affected by the condition [2].
It's essential to note that diagnostic tests for autosomal dominant diseases can vary depending on the specific condition being diagnosed. A healthcare professional will typically recommend a combination of these tests based on individual circumstances.
References: [1] Not provided (no relevant information) [2] 2. Mar 31, 2024 [3] Not provided (no relevant information) [4] 4. Find out how autosomal dominant polycystic kidney disease (ADPKD) is diagnosed. [5] 5. by PC Harris · 2010 · Cited by 182 [6] 6. Apr 14, 2020 [7] 7. This test utilizes next-generation sequencing to detect single nucleotide, small deletion-insertion, and copy number variants in 8 genes associated with ... [8] Not provided (no relevant information) [9] 9. Jul 28, 2021
Additional Diagnostic Tests
- Urine tests
- Genetic testing
- Imaging studies
- Gene panel testing
- Specialized blood tests
Treatment
Treatment Options for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder that affects the kidneys, causing them to become enlarged and develop numerous cysts. While there is no cure for ADPKD, various treatment options are available to manage its symptoms and slow down its progression.
Medications
Several medications have been investigated as potential treatments for ADPKD:
- Tolvaptan: A vasopressin receptor antagonist that has been shown to slow down kidney cyst growth and improve kidney function [3][5]. It is the only disease-specific medication approved for the treatment of ADPKD in adults who are at risk of rapidly progressing disease [5].
- **ACE inhibitors and AR
Recommended Medications
- ACE inhibitors and ARBs
- tolvaptan
💊 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
Differential Diagnosis of Autosomal Dominant Diseases
Autosomal dominant diseases are a group of genetic disorders that result from mutations in one copy of the gene, leading to various health issues. When diagnosing these conditions, it's essential to consider differential diagnoses, which involve ruling out other possible causes of symptoms.
Key Differential Diagnoses for Autosomal Dominant Diseases:
- Autosomal Recessive Polycystic Kidney Disease (ARPKD): This condition is similar to autosomal dominant polycystic kidney disease (ADPKD) but is caused by mutations in both copies of the gene. ARPKD often presents with more severe symptoms and a higher risk of complications.
- Renal Cysts and Diabetes Syndrome (HNF1B): This rare genetic disorder affects the kidneys, pancreas, and other organs, leading to cyst formation and diabetes.
- Tuberous Sclerosis Complex (TSC): TSC is an autosomal dominant disease characterized by non-cancerous tumors in various organs, including the kidneys, brain, and skin.
Other Differential Diagnoses:
- Acquired Kidney Diseases: Certain acquired kidney conditions, such as chronic kidney disease or kidney stones, can mimic symptoms of ADPKD.
- Liver Diseases: Liver conditions like liver cysts or cirrhosis may be mistaken for autosomal dominant polycystic liver disease (ADPLD).
Importance of Accurate Diagnosis:
Accurate diagnosis is crucial in managing autosomal dominant diseases. Misdiagnosis can lead to delayed treatment, worsening symptoms, and increased risk of complications.
References:
- [1] Autosomal dominant disorders are those that result from a mutation in one copy of the gene.
- [3] Problems to be considered in the differential diagnosis of autosomal dominant polycystic kidney disease include acquired kidney diseases.
- [6] The differential diagnosis for early onset ADPKD is autosomal recessive polycystic kidney disease, renal cysts and diabetes syndrome (HNF1B), tuberous sclerosis complex (TSC).
- [7] The differential diagnosis between ADPKD and other cystic kidney diseases depends on the age of the patient, family history, and the presence of associated symptoms.
- [9] This article provides a review of cystic kidney diseases for which a differential diagnosis is required for ADPKD.
Additional Differential Diagnoses
- Renal Cysts and Diabetes Syndrome (HNF1B)
- Tuberous Sclerosis Complex (TSC)
- Acquired Kidney Diseases
- Liver Diseases
- autosomal recessive polycystic kidney disease
Additional Information
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.