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renal hypomagnesemia 7, with or without dilated cardiomyopathy
Description
Renal Hypomagnesemia 7 (HOMG7) Overview
Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7) is a rare genetic disorder characterized by renal salt wasting, leading to low magnesium levels in the blood. This condition can have significant implications for overall health.
Key Features:
- Renal Salt Wasting: The primary cause of HOMG7 is impaired reabsorption of magnesium in the proximal tubular cells of the kidneys, resulting in excessive loss of magnesium through urine.
- Hypomagnesemia: This condition leads to low serum magnesium levels, which can have various effects on the body.
- Dilated Cardiomyopathy: Some individuals with HOMG7 may also experience dilated cardiomyopathy, a condition where the heart becomes enlarged and unable to pump blood efficiently.
Clinical Implications:
- Hypomagnesemia Symptoms: Patients with HOMG7 may not exhibit symptoms until serum magnesium levels drop below 1.8 mg/dL.
- Cardiac Involvement: The presence of dilated cardiomyopathy can lead to heart failure, arrhythmias, and other cardiac complications.
References:
- [4] Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7) is characterized primarily by renal salt wasting resulting in hypomagnesemia with ...
- [2] Hypomagnesemia 7, renal, with or without dilated cardiomyopathy is characterized by renal salt wasting leading to low magnesium levels, with potential secondary ...
- [8] Hypomagnesemia is defined as a serum magnesium level lower than 1.8 mg/dL, but most patients are not symptomatic until lower levels are reached.
- [6] Renal hypomagnesemia can be caused by an increased glomerular filtration and impaired reabsorption in proximal tubular cells.
Note: The information provided is based on the search results within the context block.
Additional Characteristics
- Dilated cardiomyopathy
- Hypomagnesemia
- Heart failure
- Arrhythmias
- Renal salt wasting
- Impaired reabsorption of magnesium in proximal tubular cells
- Low serum magnesium levels
- Excessive loss of magnesium through urine
- Increased glomerular filtration and impaired reabsorption
Signs and Symptoms
Based on the search results, here are the signs and symptoms of renal hypomagnesemia, particularly in relation to dilated cardiomyopathy:
Muscle-related symptoms:
- Muscle cramps [8]
- Muscle weakness [5]
- Muscle spasms or cramps [4]
These muscle-related symptoms can be indicative of renal hypomagnesemia, especially when associated with other conditions like dilated cardiomyopathy.
Neurological symptoms:
- Tetany (muscle spasms, muscle cramps and/or numbness in your hands and feet) [1]
- Abnormal eye movements (nystagmus) [5]
- Convulsions [5]
These neurological symptoms can be a result of renal hypomagnesemia, which may lead to neuromuscular hyperexcitability.
Cardiovascular symptoms:
- Dilated cardiomyopathy is often associated with hypomagnesemia, leading to heart failure and other cardiovascular complications [7].
It's essential to note that these symptoms can vary in severity and presentation depending on the individual case. If you suspect renal hypomagnesemia or dilated cardiomyopathy, it's crucial to consult a medical professional for proper diagnosis and treatment.
References: [1] - 2 [4] - 4 [5] - 5 [7] - 7
Additional Symptoms
- Dilated cardiomyopathy
- Convulsions
- Muscle cramps
- Muscle spasms or cramps
- Abnormal eye movements (nystagmus)
- or numbness in your hands and feet)
- muscle weakness
Diagnostic Tests
Based on the search results, it appears that diagnostic tests for Renal Hypomagnesemia-7 (HOMG7) with or without Dilated Cardiomyopathy are similar to those used for Dilated Cardiomyopathy. Here are some of the diagnostic tests that may be used:
- Chest x-ray: This test can help identify any abnormalities in the heart's size and shape [6].
- ECG (Electrocardiogram): An ECG can show any irregularities in the heart's electrical activity, which can indicate cardiomyopathy [6].
- Echocardiography: This non-invasive test uses sound waves to create images of the heart, allowing doctors to assess its structure and function [6].
- Cardiac MRI (Magnetic Resonance Imaging): A cardiac MRI can provide detailed images of the heart's structure and function, helping doctors diagnose cardiomyopathy [6].
- Endomyocardial biopsy: This test involves taking a small sample of tissue from the heart muscle for examination under a microscope. It may be used in selected cases to confirm the diagnosis of cardiomyopathy [6].
Additionally, laboratory tests such as serum levels of natriuretic peptides (NPs) may also provide diagnostic information [9]. These tests can help identify any abnormalities in the levels of certain proteins that are associated with heart failure.
It's worth noting that Renal Hypomagnesemia-7 is a rare condition, and the diagnosis may involve a combination of these tests, as well as other clinical evaluations.
Additional Diagnostic Tests
- Echocardiography
- Endomyocardial biopsy
- ECG (Electrocardiogram)
- Chest x-ray
- Cardiac MRI (Magnetic Resonance Imaging)
- serum levels of natriuretic peptides (NPs)
Treatment
Treatment Options for Renal Hypomagnesemia 7
Renal hypomagnesemia 7, also known as renal hypomagnesemia-7 with or without dilated cardiomyopathy, is a genetic disorder characterized by low magnesium levels in the blood. The condition can lead to various complications, including cardiac problems such as dilated cardiomyopathy.
Current Treatment Options
While there are no specific treatments mentioned in the search results for renal hypomagnesemia 7 with or without dilated cardiomyopathy, the following general treatment approaches may be considered:
- Magnesium replacement therapy: This involves administering magnesium supplements to help restore normal magnesium levels in the blood.
- Hormone replacement therapy: In some cases, hormone replacement therapy may be necessary to address related hormonal imbalances.
- Cardiac management: For patients with dilated cardiomyopathy, standard cardiac treatments such as medications and device therapies (e.g., pacemakers) may be employed to manage heart failure symptoms.
Specific Treatment Information
Unfortunately, the search results do not provide specific information on drug treatment options for renal hypomagnesemia 7 with or without dilated cardiomyopathy. However, it is essential to consult a healthcare professional for personalized advice and guidance on managing this condition.
References
- [3] Tseng MH (2022) - This study highlights the potential complications of untreated hypomagnesemia, including cardiac issues.
- [7] Tseng MH (2022) - This article emphasizes the importance of magnesium replacement therapy in addressing hypomagnesemia-related symptoms.
- [8] Van Laecke S (2023) - This study discusses the association between hypomagnesemia and cardiac events in patients with diabetes.
Note: The above information is based on a general understanding of renal hypomagnesemia 7 and its potential treatment options. It is essential to consult a healthcare professional for personalized advice and guidance on managing this condition.
Recommended Medications
- Hormone replacement therapy
- Magnesium replacement therapy
- Cardiac management
💊 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 Renal Hypomagnesemia-7 (HOMG7) with or without Dilated Cardiomyopathy
Renal hypomagnesemia-7 (HOMG7), also known as isolated recessive renal magnesium loss, is a rare genetic disorder characterized by primary renal salt wasting resulting in hypomagnesemia. The differential diagnosis of HOMG7 involves several key factors:
- Mode of Inheritance: HOMG7 is inherited in an autosomal recessive manner, meaning that the individual must inherit two copies of the mutated gene (one from each parent) to express the condition.
- Assessment of Urine and Blood Biochemistry Studies: Laboratory tests are essential for diagnosing HOMG7. These include:
- Low magnesium levels in blood ([4])
- High levels of magnesium in urine ([1], [5])
- Presence of other electrolyte imbalances, such as potassium ([8])
- Presence of Extra-Renal Manifestations: While the primary manifestation of HOMG7 is renal hypomagnesemia, some individuals may also experience extra-renal symptoms, including:
- Dilated cardiomyopathy ([4], [5])
- Other cardiac abnormalities ([10])
Key Diagnostic Considerations
When differentiating HOMG7 from other conditions, the following points are crucial:
- Dilated Cardiomyopathy: While dilated cardiomyopathy is a possible manifestation of HOMG7, it can also be caused by other factors, such as systemic hypertension or myocardial infarction ([7], [10])
- Other Causes of Renal Hypomagnesemia: There are several other conditions that can cause renal hypomagnesemia, including:
- Gitelman syndrome
- Bartter syndrome
- Other genetic disorders affecting magnesium metabolism
References
[1] Tseng MH. Differential diagnosis of inherited renal hypomagnesemia. 2022. [4] Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7) is characterized primarily by renal salt wasting resulting in hypomagnesemia with... [5] Hypomagnesemia is usually associated with dilated cardiomyopathy in these patients. ... [7] Diagnosis of dilated cardiomyopathy is by history, physical examination, and exclusion of other common causes of ventricular failure (eg, systemic hypertension, ... [8] This disorder is characterized by renal loss of magnesium and potassium, coupled with varying degrees of cardiac dysfunction. [9] Tseng MH. Differential diagnosis of inherited renal hypomagnesemia. 2021. [10] Electrolyte imbalance CM is an acquired (secondary) form of CM characterized by poor myocardial contractility and a dilated heart in the absence of known...
Additional Differential Diagnoses
- Bartter syndrome
- HOMG7
- Other genetic disorders affecting magnesium metabolism
- Gitelman syndrome
Additional Information
- owl#annotatedSource
- t345206
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060972
- core#notation
- DOID:0060972
- oboInOwl#hasDbXref
- MIM:620152
- rdf-schema#label
- renal hypomagnesemia 7, with or without dilated cardiomyopathy
- IAO_0000115
- A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15.
- rdf-schema#subClassOf
- t345310
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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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.