Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of persistent hematuria, noted on routine urinalysis. Family history is significant for hereditary nephritis, progressive renal insufficiency, and sensorineural hearing loss. Patient reports no current gross hematuria, dysuria, or flank pain. No history of hypertension or edema. Genetic testing confirms mutation in [COL4A3/COL4A4/COL4A5].
Clinical Examination Findings
Vitals: BP [value] mmHg (percentile for age/height). HEENT: Ocular exam reveals [normal/anterior lenticonus/macular flecks]. Audiometry demonstrates [normal/bilateral high-frequency sensorineural hearing loss]. Cardiovascular: S1/S2 regular, no murmurs. Abdomen: Soft, non-tender, no palpable masses or hepatosplenomegaly. Extremities: No peripheral edema. Skin: No rashes or lesions.
Treatment Protocol
Management plan: 1. Initiation of ACE inhibitor (e.g., Lisinopril) for renoprotection and reduction of proteinuria. 2. Strict blood pressure control targeting <50th percentile for age. 3. Biannual monitoring of serum creatinine, BUN, and urine protein-to-creatinine ratio. 4. Annual ophthalmology and audiology screening. 5. Referral to nephrology and genetic counseling.