E83.32
Hereditary vitamin D-dependent rickets (type 1) (type 2)
Clinical Classification Guidelines
Inclusion Terms
- 25-hydroxyvitamin D 1-alpha-hydroxylase deficiency
- Pseudovitamin D deficiency
- Vitamin D receptor defect
Medical Intelligence & Overview
Hereditary vitamin D-dependent rickets is a genetic disorder that affects how the body handles vitamin D, a vital nutrient for healthy bone development. This condition is categorized into two main types: Type 1 and Type 2. Both types interfere with normal bone growth, leading to rickets, which causes bones to become soft and weak. Understanding the differences and similarities between these types can help in recognizing the symptoms and appropriate management of the condition.
Causes & Symptoms
Clinical Causes: Mutations affecting the enzyme 25-hydroxyvitamin D 1-alpha-hydroxylase, resulting in insufficient active vitamin D production (Type 1) Defects in the vitamin D receptor, impairing the body's response to vitamin D (Type 2) Genetic inheritance patterns, often autosomal recessive, meaning a child has a higher chance of being affected if both parents carry the gene mutation
Key Symptoms: Bone pain and tenderness Delayed growth and stature in children Muscle weakness and fatigue Delayed tooth development Soft skull bones leading to a widened fontanel in infants Bowed legs or knock knees in growing children Frontal bossing – prominent forehead Rachitic rosary - nodular prominences along the ribs
Diagnostic & Treatment
Diagnosis Path: Diagnosing hereditary vitamin D-dependent rickets involves a combination of clinical evaluation and laboratory tests. These include measuring blood levels of calcium, phosphate, and vitamin D metabolites, as well as assessing parathyroid hormone levels. Genetic testing may be performed to identify specific mutations in the enzymes or receptors involved. X-rays can reveal characteristic signs of rickets, such as bone deformities and growth plate abnormalities.
Treatment Protocols: Supplementation with active forms of vitamin D, such as calcitriol or alfacalcidol, to bypass the defective enzyme or receptor Ensuring adequate calcium intake through diet or supplements Monitoring growth and bone development regularly Addressing any bone deformities or growth delays with orthopedic interventions if necessary Regular blood tests to track mineral levels and adjust therapies accordingly
Clinical Advice & FAQs
Billing Guidance
Is E83.32 a billable ICD-10 code?
Yes, E83.32 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E83.32?
Clinical documentation must specify the nature of Hereditary vitamin D-dependent rickets (type 1) (type 2) and any associated comorbidities for accurate reporting.
Cite this Clinical Reference