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Renal Hypomagnesemia 6

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Description: Renal hypomagnesemia 6 is a genetic disorder characterized by the improper reabsorption of magnesium in the kidneys, leading to abnormally low levels of magnesium in the blood.
Type: Renal hypomagnesemia 6 is a type of genetic disorder characterized by defective renal reabsorption of magnesium. It is typically inherited in an autosomal recessive manner.
Signs And Symptoms: Renal hypomagnesemia 6 (HOMG6) is characterized by the following signs and symptoms:

- Severe hypomagnesemia (low magnesium levels in the blood)
- Recurrent seizures or muscle cramps
- Tetany (muscle spasms)
- Cardiac arrhythmias (irregular heartbeats)
- Growth retardation in children
- Muscle weakness

These signs and symptoms are due to the body's inability to effectively reabsorb magnesium in the kidneys, leading to its excessive loss in the urine.
Prognosis: Renal hypomagnesemia 6 is a rare genetic disorder characterized by significantly low levels of magnesium in the blood due to impaired reabsorption in the kidneys. The prognosis for individuals with this condition can vary depending on the severity of the magnesium deficiency and the effectiveness of treatment. Early diagnosis and consistent magnesium supplementation can help manage symptoms and prevent complications, improving the overall prognosis. However, unmanaged or severe cases can lead to serious health problems such as muscle spasms, seizures, and cardiac issues. Regular monitoring and medical management are essential for maintaining health and quality of life.

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Onset: Renal hypomagnesemia 6 typically presents in infancy or early childhood.
Prevalence: The prevalence of renal hypomagnesemia 6 (OMIM 613882) is not widely documented in the literature, and specific data on prevalence is not available (NA/NAN).
Epidemiology: Renal hypomagnesemia 6 is a rare genetic disorder. Due to its rarity, specific epidemiological data, such as prevalence or incidence rates, are not well-documented in the general population. The condition is typically identified through genetic testing in individuals presenting with related symptoms, such as low levels of magnesium in the blood.
Intractability: Renal hypomagnesemia 6, caused by mutations in the EGF gene, is typically characterized by difficulty in maintaining normal magnesium levels despite supplementation. While it can be challenging to manage and may require ongoing treatment, it is not classified as intractable if properly monitored and managed with medical intervention.
Disease Severity: Renal hypomagnesemia 6 (HOMG6) is a genetic disorder characterized by impaired reabsorption of magnesium in the kidneys, leading to abnormally low levels of magnesium in the blood (hypomagnesemia). The severity of the disease can vary, but it often results in significant symptoms such as muscle cramps, seizures, and cardiac arrhythmias. Left untreated, it can lead to severe health complications. Regular monitoring and magnesium supplementation are typically required to manage the condition.
Healthcare Professionals: Disease Ontology ID - DOID:0060884
Pathophysiology: Renal hypomagnesemia 6 is a genetic disorder characterized by impaired reabsorption of magnesium in the renal tubules, leading to excessive loss of magnesium in the urine. This condition is caused by mutations in specific genes, which disrupt the function of proteins involved in magnesium transport in the kidneys. As a result, affected individuals experience low levels of magnesium in the blood (hypomagnesemia), potentially leading to symptoms such as muscle cramps, tetany, and seizures.
Carrier Status: Renal hypomagnesemia 6 is an inherited disorder caused by mutations in the EGF or EGFR genes. Carrier status refers to individuals who carry one copy of the mutated gene but do not exhibit symptoms of the disease. These carriers can pass the mutation to their offspring. The term "nan" often stands for "not a number" or could be placeholder text; if specific numeric data is required, additional context would be needed.
Mechanism: Renal hypomagnesemia 6, also known as familial hypomagnesemia with secondary hypocalcemia (HOMG6), typically results from genetic mutations affecting magnesium reabsorption in the renal tubules.

**Mechanism:**
The primary mechanism involves defective renal handling of magnesium, leading to its increased excretion and subsequently low serum magnesium levels (hypomagnesemia).

**Molecular Mechanism:**
The molecular basis often involves mutations in the gene encoding Claudin-16 (CLDN16) or Claudin-19 (CLDN19), both of which are integral components of tight junctions in the renal epithelial cells. These proteins play a critical role in paracellular magnesium reabsorption in the thick ascending limb of the loop of Henle. Mutations in these genes disrupt this process, resulting in inefficient magnesium reabsorption and persistent hypomagnesemia.

Secondary effects can include hypocalcemia, as magnesium is essential for parathyroid hormone (PTH) function, and deficiencies in magnesium can impair PTH secretion and action, leading to decreased calcium levels.
Treatment: Renal hypomagnesemia 6 is a rare genetic disorder affecting the magnesium balance in the body. Treatment typically focuses on:

1. **Magnesium Supplementation**: Oral magnesium supplements are often prescribed to increase the levels of magnesium in the blood. In severe cases, intravenous magnesium may be necessary.

2. **Dietary Adjustments**: Increasing the intake of magnesium-rich foods, such as nuts, seeds, whole grains, and green leafy vegetables, can help manage the condition.

3. **Monitoring**: Regular monitoring of blood magnesium levels is important to adjust the treatment plan as needed.

4. **Addressing Symptoms**: Any symptoms resulting from hypomagnesemia, such as muscle cramps or cardiac issues, should be managed accordingly.

Consultation with a healthcare provider specializing in nephrology or genetics is advised for personalized management.
Compassionate Use Treatment: Renal hypomagnesemia 6 is a rare genetic disorder characterized by low blood magnesium levels due to impaired reabsorption in the kidneys. Currently, there are limited established treatments for this condition. However, here are the points related to potential compassionate use and off-label treatments:

1. **Magnesium Supplements**: Oral magnesium supplements such as magnesium oxide, magnesium chloride, or magnesium gluconate are commonly used to manage symptoms and increase blood magnesium levels. While not a cure, this approach is essential for symptom control.

2. **Intravenous Magnesium**: In severe cases where oral supplementation is ineffective, intravenous magnesium may be administered to rapidly increase magnesium levels in the blood.

3. **Thiazide Diuretics**: These medications are sometimes used off-label because they can reduce urinary magnesium excretion, helping to retain more magnesium in the body.

4. **Experimental Treatments**: There is ongoing research to better understand the underlying genetic mutations and pathways involved in renal hypomagnesemia. Gene therapy or novel pharmacological approaches might become future treatment avenues, but these are still in experimental stages.

Due to the rarity of the condition, treatment plans should be personalized and closely monitored by healthcare professionals.
Lifestyle Recommendations: Renal hypomagnesemia 6 (RTSH6) is a rare genetic disorder characterized by low magnesium levels in the blood due to renal losses. For individuals with this condition, lifestyle recommendations would include:

1. **Magnesium-Rich Diet:** Incorporate foods high in magnesium such as green leafy vegetables, nuts, seeds, whole grains, and fish.
2. **Supplements:** Magnesium supplements may be necessary to maintain adequate levels, but these should be taken under medical supervision.
3. **Hydration:** Proper hydration can help maintain kidney function and overall health.
4. **Medication Management:** Some medications can affect magnesium levels. It's important to inform your healthcare provider about all medications being taken.
5. **Regular Monitoring:** Frequent monitoring of blood magnesium levels is crucial to adjust dietary and supplemental intake as needed.
6. **Avoid Alcohol and Caffeine:** These can affect magnesium absorption and excretion.

Always consult with a healthcare provider for personalized advice and management options.
Medication: Renal hypomagnesemia 6 is a condition that results from mutations in the EGF gene, leading to impaired renal reabsorption of magnesium. Treatment typically involves oral magnesium supplements to manage magnesium levels. In some cases, intravenous magnesium may be administered for severe deficiencies. There is no specific medication targeted at the genetic cause; treatment focuses on managing the symptoms and monitoring magnesium levels regularly.
Repurposable Drugs: Renal hypomagnesemia 6 is a disorder characterized by low magnesium levels due to renal magnesium wasting. While specific treatments and repurposable drugs may vary and should be personalized based on individual needs, some commonly considered medications for managing hypomagnesemia include:

1. **Magnesium supplements**: Oral or intravenous magnesium salts are the primary treatment to correct low magnesium levels.

2. **Thiazide diuretics**: Sometimes used to reduce magnesium loss in urine.

3. **Proton pump inhibitors (PPIs) alternative management**: PPIs can cause hypomagnesemia, and substitution with H2 antagonists might be considered.

Consultation with a healthcare professional is essential for individual treatment plans and the use of off-label or repurposed medications.
Metabolites: Renal hypomagnesemia 6 is associated with abnormal magnesium metabolism, resulting in low levels of magnesium in the blood (hypomagnesemia). Specific metabolites of interest include magnesium itself and other electrolytes that can be affected due to the imbalance, such as calcium and potassium. Additionally, disturbances in parathyroid hormone (PTH) levels might also be indirectly involved because of their role in magnesium regulation.
Nutraceuticals: Regarding renal hypomagnesemia 6, specific nutraceuticals have not been established as a standardized treatment. Primary management focuses on magnesium supplementation to correct magnesium deficiency. If you are seeking adjunctive nutraceutical interventions, it would be best to consult with a healthcare provider for personalized recommendations.
Peptides: Renal hypomagnesemia 6 (HOMG6) is caused by mutations in the EGF gene. Peptides are short chains of amino acids, but specific peptide therapy for this condition is not established. Magnesium supplementation is the primary treatment. The term "nan" (not a number) does not provide relevant information in the context of this disease.