ICD-10: E79.82

Hereditary xanthinuria is a rare genetic disorder characterized by the accumulation of xanthine, a purine derivative, in the body due to a deficiency in the enzyme xanthine dehydrogenase. This condition is classified under the ICD-10-CM code E79.82, which falls within the broader category of disorders related to purine and pyrimidine metabolism (E79).

Clinical Description

Pathophysiology

Hereditary xanthinuria results from mutations in the XDH gene, which encodes the enzyme xanthine dehydrogenase. This enzyme is crucial for the conversion of hypoxanthine to xanthine and subsequently to uric acid. In individuals with hereditary xanthinuria, the deficiency of this enzyme leads to the accumulation of xanthine in the urine and other tissues, which can result in various clinical manifestations.

Symptoms

Patients with hereditary xanthinuria may present with a range of symptoms, including:

• Recurrent kidney stones: The accumulation of xanthine can lead to the formation of xanthine stones in the kidneys, which may cause pain and urinary obstruction.
• Hematuria: Blood in the urine can occur due to the irritation of the urinary tract by xanthine crystals.
• Renal impairment: Chronic accumulation of xanthine can lead to kidney damage over time.
• Gout-like symptoms: Although uric acid levels are typically low in these patients, the presence of xanthine can mimic some symptoms of gout.

Diagnosis

Diagnosis of hereditary xanthinuria is typically made through:

• Urine analysis: Elevated levels of xanthine in the urine can be detected.
• Genetic testing: Identification of mutations in the XDH gene can confirm the diagnosis.
• Imaging studies: Ultrasound or CT scans may be used to identify kidney stones.

Management

Management of hereditary xanthinuria focuses on preventing complications and managing symptoms:

• Hydration: Increased fluid intake is essential to dilute urine and reduce the risk of stone formation.
• Dietary modifications: Limiting purine-rich foods may help reduce xanthine levels.
• Medications: In some cases, medications that promote the excretion of xanthine or prevent stone formation may be prescribed.

Conclusion

Hereditary xanthinuria, classified under ICD-10 code E79.82, is a metabolic disorder that requires careful management to prevent complications such as kidney stones and renal impairment. Early diagnosis and appropriate treatment strategies are crucial for improving patient outcomes and quality of life. Regular follow-up and monitoring are recommended to manage the condition effectively and address any arising complications.

Hereditary xanthinuria, classified under ICD-10 code E79.82, is a rare metabolic disorder characterized by the accumulation of xanthine due to a deficiency in the enzyme xanthine oxidase. This condition can lead to various health issues, including kidney stones and potential renal damage. Below are alternative names and related terms associated with hereditary xanthinuria.

Alternative Names

1. Xanthinuria: This is a broader term that refers to the presence of xanthine in the urine, which is a hallmark of the condition.
2. Hereditary Xanthinuria Type I: This term is sometimes used to specify the genetic form of the disorder.
3. Xanthine Metabolism Disorder: This term encompasses the metabolic dysfunction associated with xanthine accumulation.
4. Xanthine Oxidase Deficiency: This name highlights the specific enzymatic deficiency that leads to the disorder.

Related Terms

1. Purine Metabolism Disorders: Hereditary xanthinuria falls under this category, which includes various conditions affecting the metabolism of purines.
2. Uric Acid Disorders: While hereditary xanthinuria is characterized by low uric acid levels, it is often discussed in the context of disorders related to uric acid metabolism.
3. Xanthine Stones: Refers to kidney stones formed from xanthine, a common complication of hereditary xanthinuria.
4. Metabolic Disorders: A broader category that includes hereditary xanthinuria as a specific type of metabolic dysfunction.

Conclusion

Understanding the alternative names and related terms for hereditary xanthinuria can aid in better communication among healthcare professionals and enhance patient education. This knowledge is particularly useful for those involved in the diagnosis and management of metabolic disorders. If you need further information on this condition or related topics, feel free to ask!

Hereditary xanthinuria, classified under ICD-10 code E79.82, is a rare metabolic disorder characterized by the accumulation of xanthine due to a deficiency in the enzyme xanthine dehydrogenase. This condition can lead to various health issues, including kidney stones and potential renal damage. The diagnosis of hereditary xanthinuria typically involves several criteria and diagnostic methods, which are outlined below.

Diagnostic Criteria for Hereditary Xanthinuria

1. Clinical Presentation

• Symptoms: Patients may present with symptoms related to kidney stones, such as flank pain, hematuria (blood in urine), and urinary tract infections. Some individuals may be asymptomatic until complications arise.
• Family History: A positive family history of xanthinuria or related metabolic disorders can support the diagnosis, as hereditary xanthinuria is inherited in an autosomal recessive pattern.

2. Biochemical Testing

• Urine Analysis: A 24-hour urine collection may reveal elevated levels of xanthine. Normal urine typically contains very low levels of xanthine, so significant elevations can indicate a metabolic disorder.
• Plasma Analysis: Blood tests may show elevated xanthine levels, particularly in cases where kidney function is compromised.

3. Genetic Testing

• Molecular Genetic Testing: Identification of mutations in the XDH gene, which encodes the xanthine dehydrogenase enzyme, can confirm the diagnosis. Genetic testing is particularly useful in ambiguous cases or when a family history is present.

4. Imaging Studies

• Ultrasound or CT Scan: Imaging studies may be performed to assess for the presence of kidney stones or other renal complications associated with xanthinuria. These studies help evaluate the extent of kidney damage or obstruction.

5. Differential Diagnosis

• It is essential to rule out other conditions that may present similarly, such as other types of urolithiasis (kidney stones) or metabolic disorders affecting purine metabolism. This may involve additional biochemical tests and clinical evaluations.

Conclusion

The diagnosis of hereditary xanthinuria (ICD-10 code E79.82) relies on a combination of clinical evaluation, biochemical testing, genetic analysis, and imaging studies. Early diagnosis is crucial to manage symptoms and prevent complications, particularly renal damage due to xanthine accumulation. If you suspect hereditary xanthinuria, consulting a healthcare professional for comprehensive testing and evaluation is recommended.

Hereditary xanthinuria, classified under ICD-10 code E79.82, is a rare genetic disorder characterized by the accumulation of xanthine in the body due to a deficiency of the enzyme xanthine dehydrogenase. This condition can lead to various complications, including kidney stones and potential renal damage. The management of hereditary xanthinuria primarily focuses on dietary modifications, hydration, and symptomatic treatment. Below is a detailed overview of the standard treatment approaches for this condition.

Dietary Management

Low-Purine Diet

One of the primary treatment strategies for hereditary xanthinuria is the implementation of a low-purine diet. Since purines are metabolized into xanthine, reducing their intake can help minimize xanthine production. Foods high in purines, such as red meats, organ meats, certain fish, and some legumes, should be limited or avoided. Instead, patients are encouraged to consume:

• Fruits and Vegetables: These are generally low in purines and provide essential nutrients.
• Dairy Products: Low-fat dairy can be included as a good source of protein without high purine content.
• Grains: Whole grains and cereals are typically low in purines and can be included in the diet.

Hydration

Increased fluid intake is crucial for patients with hereditary xanthinuria. Adequate hydration helps dilute urine, reducing the risk of xanthine crystallization and subsequent kidney stone formation. Patients are often advised to drink plenty of water throughout the day, aiming for at least 2-3 liters, depending on individual needs and kidney function.

Pharmacological Treatment

Allopurinol

While allopurinol is primarily used to treat gout and hyperuricemia by inhibiting xanthine oxidase, its use in hereditary xanthinuria is less common but may be considered in certain cases. Allopurinol can help lower xanthine levels by promoting its conversion to less harmful metabolites. However, the decision to use allopurinol should be made on a case-by-case basis, considering the patient's overall health and specific circumstances.

Pain Management

For patients experiencing pain due to kidney stones or other complications, analgesics may be prescribed. Non-steroidal anti-inflammatory drugs (NSAIDs) can be effective in managing pain and inflammation.

Monitoring and Follow-Up

Regular Check-Ups

Patients with hereditary xanthinuria should have regular follow-ups with healthcare providers to monitor kidney function and assess for any complications, such as the formation of kidney stones. Routine urinalysis can help detect the presence of xanthine crystals and guide further management.

Genetic Counseling

Since hereditary xanthinuria is a genetic disorder, genetic counseling may be beneficial for affected individuals and their families. This can provide insights into inheritance patterns, risks for future offspring, and the implications of the condition.

Conclusion

The management of hereditary xanthinuria (ICD-10 code E79.82) involves a multifaceted approach that includes dietary modifications, increased hydration, and symptomatic treatment. Regular monitoring and potential pharmacological interventions can help mitigate complications associated with the condition. As with any medical condition, treatment should be personalized, and patients are encouraged to work closely with healthcare professionals to develop an effective management plan tailored to their specific needs.

Hereditary xanthinuria, classified under ICD-10 code E79.82, is a rare metabolic disorder characterized by the accumulation of xanthine due to a deficiency in the enzyme xanthine dehydrogenase. This condition can lead to various clinical manifestations, which are important for diagnosis and management. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with hereditary xanthinuria.

Clinical Presentation

Overview

Hereditary xanthinuria is primarily characterized by the excessive excretion of xanthine in the urine, which can lead to the formation of xanthine crystals. The condition is often asymptomatic in its early stages but can progress to more severe complications if not managed appropriately.

Signs and Symptoms

1. Renal Symptoms:
   - Kidney Stones: Patients may develop xanthine stones, which can lead to renal colic, hematuria (blood in urine), and urinary obstruction. The stones are typically radiolucent, making them difficult to detect on standard X-rays.
   - Chronic Kidney Disease: Prolonged accumulation of xanthine can result in renal impairment and chronic kidney disease.

2. Urological Symptoms:
   - Urinary Tract Infections (UTIs): The presence of xanthine crystals can predispose patients to recurrent UTIs.
   - Dysuria: Patients may experience painful urination due to irritation from crystals.

3. Systemic Symptoms:
   - Gout-like Symptoms: Although less common, some patients may experience joint pain or swelling due to the deposition of xanthine crystals in joints, mimicking gout.

4. Neurological Symptoms:
   - In rare cases, neurological manifestations may occur, including seizures or developmental delays, particularly in severe cases of the disorder.

Patient Characteristics

• Genetic Background: Hereditary xanthinuria is inherited in an autosomal recessive pattern, meaning that both parents must carry the gene mutation for a child to be affected. Genetic testing can confirm the diagnosis.
• Age of Onset: Symptoms may present in childhood or early adulthood, but some individuals remain asymptomatic until later in life.
• Demographics: The condition is rare, and its prevalence may vary by population. It is more commonly reported in certain ethnic groups due to genetic factors.

Diagnosis

Diagnosis of hereditary xanthinuria typically involves:
- Urine Analysis: Elevated levels of xanthine in the urine can be detected through biochemical analysis.
- Genetic Testing: Identification of mutations in the xanthine dehydrogenase gene can confirm the diagnosis.
- Imaging Studies: Ultrasound or CT scans may be used to identify kidney stones or other renal abnormalities.

Management

Management of hereditary xanthinuria focuses on preventing complications:
- Hydration: Increased fluid intake is crucial to dilute urine and reduce the risk of stone formation.
- Dietary Modifications: A diet low in purines may help decrease xanthine production.
- Medications: In some cases, medications that promote the excretion of xanthine or prevent stone formation may be prescribed.

Conclusion

Hereditary xanthinuria is a rare metabolic disorder that can lead to significant renal and urological complications if not diagnosed and managed appropriately. Awareness of its clinical presentation, signs, symptoms, and patient characteristics is essential for healthcare providers to ensure timely intervention and improve patient outcomes. Regular monitoring and supportive care can help manage the condition effectively, reducing the risk of complications associated with xanthine accumulation.