Lowe's syndrome
ICD-10 E72.03 is a billable code used to indicate a diagnosis of lowe's syndrome.
Lowe's syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder caused by mutations in the OCRL gene located on chromosome X. This condition is characterized by a triad of symptoms: congenital cataracts, renal dysfunction, and neurological impairment. Patients often present with ocular abnormalities, including bilateral cataracts and glaucoma, which can lead to significant visual impairment. Renal manifestations may include renal tubular acidosis and nephrocalcinosis, resulting in electrolyte imbalances and potential kidney failure. Neurological symptoms can range from developmental delays to intellectual disabilities, with some individuals experiencing seizures. The syndrome is inherited in an X-linked recessive pattern, predominantly affecting males, while females may exhibit milder symptoms or be asymptomatic carriers. Early diagnosis and management are crucial to address the multi-systemic complications associated with Lowe's syndrome, including regular ophthalmologic evaluations, renal function monitoring, and supportive therapies for neurological deficits.
Detailed family history and genetic testing results.
Evaluation of family members for carrier status and genetic counseling.
Documentation must clearly indicate the genetic basis of the condition.
Comprehensive developmental assessments and multi-disciplinary evaluations.
Management of developmental delays and referrals to specialists.
Regular monitoring of visual and renal health is essential.
Used when confirming a diagnosis of Lowe's syndrome.
Documentation of clinical suspicion and family history.
Genetic counseling may be necessary post-testing.
The key symptoms include congenital cataracts, renal dysfunction, and neurological impairment, which can vary in severity among affected individuals.
