Overview
ICD-10 code D812, also known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH), is a rare genetic disorder characterized by defects in the renal tubular phosphate reabsorption, leading to phosphate wasting and rickets. This condition affects the metabolism of phosphate and calcium in the body, resulting in skeletal abnormalities and impaired bone development. The prevalence of D812 is low, with only a few cases reported in the medical literature.
Signs and Symptoms
Patients with D812 may present with a variety of signs and symptoms, including bowed legs, short stature, dental abnormalities, and bone pain. Hypercalciuria, or high levels of calcium in the urine, is a common feature of this condition. Additionally, affected individuals may experience recurrent fractures and muscle weakness due to the defective mineralization of bones.
Causes
D812 is caused by mutations in the genes responsible for phosphate transport in the kidneys, specifically the SLC34A3 gene. These mutations impair the reabsorption of phosphate in the renal tubules, leading to the characteristic features of the disorder. The inheritance pattern of D812 is autosomal recessive, meaning that individuals must inherit two copies of the mutated gene – one from each parent – to develop the condition.
Prevalence and Risk
Hereditary hypophosphatemic rickets with hypercalciuria is a rare disorder, with an estimated prevalence of less than 1 in 1,000,000 individuals. The risk of developing D812 is higher in individuals with a family history of the disorder, as it is inherited in an autosomal recessive manner. However, spontaneous mutations can also occur, leading to the development of the condition in individuals without a family history.
Diagnosis
Diagnosing D812 can be challenging, as the signs and symptoms of the disorder are nonspecific and may overlap with other conditions. A thorough clinical evaluation, including a detailed medical history and physical examination, is crucial for the diagnosis of D812. Laboratory tests, such as serum phosphate and calcium levels, urinary phosphate excretion, and genetic testing, can help confirm the diagnosis of this disorder.
Treatment and Recovery
The management of D812 focuses on addressing the underlying metabolic abnormalities and preventing complications associated with the disorder. Treatment may include oral phosphate supplements to correct phosphate levels, vitamin D supplements to improve calcium absorption, and medications to reduce urinary calcium excretion. Regular monitoring of bone health and growth is essential to assess the response to treatment and adjust therapy as needed.
Prevention
As D812 is a genetic disorder, there are no specific preventive measures available to avoid its development. However, genetic counseling may be beneficial for individuals with a family history of the condition, as it can help assess the risk of passing the mutated gene to future generations. Early diagnosis and prompt initiation of treatment can help improve outcomes and prevent complications associated with D812.
Related Diseases
D812 is part of a group of genetic disorders known as renal phosphate wasting syndromes, which are characterized by defects in phosphate metabolism and renal tubular function. Other related diseases include X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets (ADHR), and hereditary hypophosphatemic rickets with hypercalciuria type 2 (HHRH2). These disorders share similar clinical features and may require similar treatment approaches.
Coding Guidance
When assigning the ICD-10 code D812 for hereditary hypophosphatemic rickets with hypercalciuria, it is important to document the specific type of rickets and any associated symptoms or complications. Coders should also review the official coding guidelines and instructions for accurate code assignment and documentation requirements. Proper documentation is essential to ensure that the correct diagnosis code is reported for billing and reimbursement purposes.
Common Denial Reasons
Common reasons for denial of claims related to D812 may include insufficient documentation to support the medical necessity of services, coding errors, and lack of specificity in the diagnosis code selection. To avoid claim denials, healthcare providers should ensure that all relevant clinical information is accurately documented in the medical record and that the appropriate diagnosis code is selected based on the patient’s condition. Regular audits and compliance reviews can help identify and address potential issues before claims are submitted for reimbursement.