ICD-10: E72.53

Primary hyperoxaluria is a rare genetic disorder characterized by the overproduction of oxalate, a compound that can lead to the formation of kidney stones and other complications. The ICD-10-CM code for primary hyperoxaluria is E72.53. Below is a detailed clinical description and relevant information regarding this condition.

Clinical Description

Definition

Primary hyperoxaluria is a metabolic disorder caused by a deficiency in one of the enzymes responsible for the metabolism of glyoxylate, leading to excessive production of oxalate. The condition is primarily classified into three types based on the specific enzyme deficiency:

1. Type 1: Caused by a deficiency of the enzyme alanine-glyoxylate aminotransferase (AGT), which is the most common and severe form.
2. Type 2: Resulting from a deficiency of glyoxylate reductase/hydroxypyruvate reductase (GRHPR).
3. Type 3: Associated with a deficiency of the enzyme 4-hydroxy-2-oxoglutarate aldolase (HOGA1), which is less common.

Symptoms

Patients with primary hyperoxaluria may experience a range of symptoms, including:

• Kidney Stones: The most common manifestation, often leading to recurrent urinary tract infections and renal colic.
• Kidney Damage: Chronic kidney disease can develop due to the accumulation of calcium oxalate crystals in the kidneys.
• Systemic Complications: In severe cases, oxalate can deposit in other organs, leading to complications such as bone disease, cardiovascular issues, and skin problems.

Diagnosis

Diagnosis typically involves:

• Clinical Evaluation: Assessment of symptoms and family history.
• Urine Tests: Measurement of oxalate levels in urine, which are elevated in affected individuals.
• Genetic Testing: Identification of mutations in the genes associated with the enzyme deficiencies.

Treatment

Management of primary hyperoxaluria focuses on reducing oxalate levels and preventing complications:

• Dietary Modifications: Reducing dietary oxalate intake and increasing fluid intake to dilute urine.
• Medications: Use of agents like potassium citrate to help prevent stone formation.
• Lumasiran (Oxlumo): A newer treatment option that targets the underlying metabolic defect in type 1 primary hyperoxaluria, reducing oxalate production[5][10].
• Kidney Transplantation: In severe cases, especially when kidney function is significantly impaired, transplantation may be necessary.

Clinical and Economic Impact

The clinical impact of primary hyperoxaluria is significant due to its potential to cause severe kidney damage and other systemic complications. The economic burden includes costs associated with recurrent hospitalizations, surgeries for kidney stones, and long-term management of chronic kidney disease[5][6].

Conclusion

Primary hyperoxaluria, coded as E72.53 in the ICD-10-CM, is a serious metabolic disorder that requires careful management to prevent complications. Early diagnosis and intervention are crucial for improving patient outcomes and minimizing the economic impact associated with this condition. As research continues, new therapies like Lumasiran offer hope for more effective management of this challenging disorder.

Primary hyperoxaluria is a rare genetic disorder characterized by excessive production of oxalate, leading to various clinical manifestations primarily affecting the kidneys. The condition is classified under ICD-10 code E72.53. Below is a detailed overview of its clinical presentation, signs, symptoms, and patient characteristics.

Clinical Presentation

Primary hyperoxaluria typically presents in three types, with Type 1 being the most common and severe form. The clinical presentation can vary significantly among patients, but it generally includes:

• Kidney Stones: Patients often experience recurrent kidney stones due to high oxalate levels, which can lead to renal colic and hematuria (blood in urine).
• Kidney Damage: Chronic kidney disease may develop as a result of the accumulation of calcium oxalate crystals in the renal tubules, leading to nephrocalcinosis and ultimately renal failure if untreated[1][2].

Signs and Symptoms

The signs and symptoms of primary hyperoxaluria can be quite diverse and may include:

• Renal Symptoms:
• Flank Pain: Often due to kidney stones.
• Hematuria: Blood in urine, which can be visible or microscopic.

• Frequent Urination: Increased urgency and frequency of urination may occur.

• Systemic Symptoms:

• Nausea and Vomiting: These may arise from pain or complications related to kidney stones.

• Fatigue: Generalized fatigue can occur, particularly in cases of chronic kidney disease.

• Signs of Kidney Failure: In advanced cases, patients may exhibit symptoms related to kidney failure, such as:

• Swelling (edema) due to fluid retention.
• Changes in urine output (oliguria or anuria).
• Hypertension (high blood pressure).

Patient Characteristics

The characteristics of patients with primary hyperoxaluria can vary, but several key factors are often observed:

• Age of Onset: Symptoms can begin in childhood or early adulthood, particularly for Type 1, but may also present later in life.
• Genetic Background: Primary hyperoxaluria 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.
• Family History: A family history of kidney stones or renal disease may be present, indicating a genetic predisposition to the disorder.
• Comorbid Conditions: Patients may have other conditions that affect kidney function or metabolic processes, which can complicate the clinical picture.

Conclusion

Primary hyperoxaluria, classified under ICD-10 code E72.53, presents with a range of clinical symptoms primarily related to kidney dysfunction and stone formation. Early recognition and management are crucial to prevent severe complications, including end-stage renal disease. Genetic counseling and testing are recommended for affected individuals and their families to understand the hereditary nature of the condition and to guide treatment options. Regular monitoring and supportive care can significantly improve patient outcomes and quality of life.

Primary hyperoxaluria, classified under the ICD-10 code E72.53, is a rare genetic disorder characterized by excessive production of oxalate, leading to kidney stones and potential kidney damage. Understanding alternative names and related terms for this condition can enhance clarity in medical documentation and communication. Below are some of the key alternative names and related terms associated with primary hyperoxaluria.

Alternative Names

1. Primary Hyperoxaluria Type 1 (PH1): This is the most common form of primary hyperoxaluria, caused by a deficiency in the enzyme alanine-glyoxylate aminotransferase (AGT) in the liver.

2. Primary Hyperoxaluria Type 2 (PH2): This type is less common and results from a deficiency in the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR).

3. Primary Hyperoxaluria Type 3 (PH3): The rarest form, associated with a deficiency in the enzyme 4-hydroxy-2-oxoglutarate aldolase (HOGA1).

4. Oxalosis: A term often used to describe the systemic effects of excessive oxalate accumulation, which can occur in advanced cases of primary hyperoxaluria.

Related Terms

1. Hyperoxaluria: A broader term that refers to the presence of high levels of oxalate in the urine, which can be due to various causes, including primary hyperoxaluria.

2. Kidney Stones: A common complication of primary hyperoxaluria, as the excess oxalate can crystallize and form stones in the kidneys.

3. Renal Failure: A potential outcome of untreated primary hyperoxaluria, where the kidneys lose their ability to function properly due to oxalate accumulation.

4. Genetic Metabolic Disorder: Primary hyperoxaluria falls under this category, as it is inherited and involves metabolic dysfunction.

5. Urolithiasis: A medical term for the formation of stones in the urinary tract, which is a significant concern for patients with primary hyperoxaluria.

6. Calcium Oxalate Crystals: These are the specific type of crystals that form due to high oxalate levels, leading to kidney stones.

Understanding these alternative names and related terms can facilitate better communication among healthcare providers and improve patient education regarding primary hyperoxaluria and its implications.

Primary hyperoxaluria is a rare genetic disorder characterized by excessive production of oxalate, leading to kidney stones and potential kidney damage. The diagnosis of primary hyperoxaluria, particularly for the ICD-10 code E72.53, involves a combination of clinical criteria, biochemical tests, and genetic analysis. Below is a detailed overview of the criteria used for diagnosis.

Clinical Criteria

1. Symptoms: Patients may present with symptoms such as recurrent kidney stones, hematuria (blood in urine), and renal colic. In severe cases, they may experience kidney failure due to oxalate accumulation.

2. Family History: A family history of kidney stones or primary hyperoxaluria can support the diagnosis, as the condition is inherited in an autosomal recessive manner.

Biochemical Tests

1. Urinary Oxalate Levels: The primary diagnostic test involves measuring oxalate levels in a 24-hour urine sample. Elevated urinary oxalate levels (greater than 40 mg per day) are indicative of primary hyperoxaluria.

2. Calcium and Creatinine Levels: Assessing calcium and creatinine levels in urine can help rule out other causes of hyperoxaluria, such as dietary factors or secondary hyperoxaluria.

3. Plasma Oxalate Levels: In some cases, measuring plasma oxalate levels can provide additional information, especially in patients with renal impairment.

Genetic Testing

1. Genetic Analysis: Genetic testing for mutations in the AGXT gene (associated with primary hyperoxaluria type 1) or other related genes (for types 2 and 3) is crucial for confirming the diagnosis. Identification of pathogenic variants supports the diagnosis of primary hyperoxaluria.

Imaging Studies

1. Ultrasound or CT Scan: Imaging studies may be performed to assess for kidney stones or any structural abnormalities in the kidneys that could be related to oxalate deposition.

Differential Diagnosis

1. Exclusion of Other Conditions: It is essential to exclude other causes of hyperoxaluria, such as dietary factors, intestinal disorders (like short bowel syndrome), or other metabolic conditions that can lead to increased oxalate production.

Conclusion

The diagnosis of primary hyperoxaluria (ICD-10 code E72.53) is multifaceted, involving clinical evaluation, biochemical testing, genetic analysis, and imaging studies. A comprehensive approach is necessary to ensure accurate diagnosis and appropriate management of this rare condition. If you suspect primary hyperoxaluria, it is advisable to consult a healthcare professional for further evaluation and testing.

Primary hyperoxaluria, classified under ICD-10 code E72.53, is a rare genetic disorder characterized by excessive production of oxalate, leading to kidney stones and potential kidney damage. The management of this condition is multifaceted, focusing on reducing oxalate levels, preventing complications, and addressing any renal impairment. Below, we explore the standard treatment approaches for primary hyperoxaluria.

Overview of Primary Hyperoxaluria

Primary hyperoxaluria is primarily caused by genetic mutations that affect the liver's ability to metabolize glyoxylate, leading to increased oxalate production. There are three types of primary hyperoxaluria, with type 1 being the most common and severe. The condition can lead to recurrent kidney stones, nephrocalcinosis, and ultimately end-stage renal disease if not managed effectively[1].

Standard Treatment Approaches

1. Hydration and Dietary Modifications

• Increased Fluid Intake: Patients are often advised to increase their fluid intake to dilute urine and reduce the concentration of oxalate, thereby minimizing the risk of stone formation[2].
• Dietary Changes: A low-oxalate diet may be recommended, which involves limiting foods high in oxalate such as spinach, nuts, and chocolate. Additionally, increasing calcium intake can help bind oxalate in the gut, reducing its absorption[3].

2. Medications

• Potassium Citrate: This medication can help alkalinize the urine, which may reduce the formation of calcium oxalate stones. It also helps to increase urinary citrate levels, which inhibit stone formation[4].
• Lumasiran (Oxlumo): Recently approved for the treatment of primary hyperoxaluria type 1, Lumasiran is an RNA interference therapy that reduces the production of oxalate by targeting the enzyme responsible for its overproduction. This treatment has shown promise in lowering urinary oxalate levels and preventing complications associated with the disease[5].

3. Monitoring and Management of Complications

• Regular Monitoring: Patients require regular follow-up to monitor kidney function, urinary oxalate levels, and the presence of kidney stones. This may involve imaging studies and laboratory tests[6].
• Management of Kidney Stones: If stones develop, treatment options may include extracorporeal shock wave lithotripsy (ESWL) or surgical intervention, depending on the size and location of the stones[7].

4. Renal Replacement Therapy

• Dialysis: In cases of advanced kidney disease, dialysis may be necessary to manage renal failure and remove excess oxalate from the bloodstream[8].
• Kidney Transplantation: For patients with end-stage renal disease, kidney transplantation may be considered. However, it is crucial to manage oxalate levels pre- and post-transplant to prevent recurrence of oxalate-related complications[9].

Conclusion

The management of primary hyperoxaluria requires a comprehensive approach that includes hydration, dietary modifications, pharmacological interventions, and regular monitoring for complications. With the advent of targeted therapies like Lumasiran, patients now have more options to manage this challenging condition effectively. Ongoing research and clinical trials continue to explore new treatment avenues, aiming to improve outcomes for individuals affected by primary hyperoxaluria. Regular consultations with healthcare providers specializing in metabolic disorders are essential for optimizing treatment strategies and ensuring the best possible care.