Cystinosis
ICD-10 E72.04 is a billable code used to indicate a diagnosis of cystinosis.
Cystinosis is a rare genetic metabolic disorder characterized by the accumulation of cystine within lysosomes due to a defective cystine transporter. This condition is caused by mutations in the CTNS gene, leading to impaired cystine transport and subsequent crystal formation in various tissues, particularly the kidneys, eyes, and other organs. Clinically, cystinosis presents with renal tubular Fanconi syndrome, which manifests as renal phosphate wasting, aminoaciduria, and glucosuria. Patients often develop renal failure in childhood or adolescence, necessitating renal replacement therapy. Extra-renal manifestations include ocular complications such as corneal deposits leading to photophobia and visual impairment, growth retardation, and endocrine dysfunction. Early diagnosis and treatment with cystine-depleting agents, such as cysteamine, can significantly improve outcomes and delay the progression of renal disease. Regular monitoring and multidisciplinary management are essential for optimizing patient care.
Detailed renal function tests, history of renal complications, and treatment plans.
Management of renal failure, monitoring of electrolyte imbalances, and initiation of renal replacement therapy.
Ensure accurate coding of renal impairment stages and associated complications.
Genetic testing results, family history, and mutation analysis.
Counseling families about inheritance patterns and implications of genetic testing.
Documentation must include specific mutations and their clinical significance.
Used for confirming diagnosis in suspected cystinosis cases.
Genetic testing results and clinical indications for testing.
Genetic counseling may be necessary for family members.
Cystinosis is primarily caused by mutations in the CTNS gene, which encodes a cystine transporter responsible for cystine transport out of lysosomes.
