Differential Diagnosis for a 9-year-old boy with dark brown urine
- Single most likely diagnosis
- Alport syndrome: This condition is characterized by sensorineural hearing loss, hematuria, and a family history of renal disease, which aligns with the patient's symptoms and family history. The worsening hearing loss over the past 4 years and the maternal uncle's death from complications of a renal transplant also support this diagnosis.
- Other Likely diagnoses
- IgA nephropathy: Although the patient does not have the typical symptoms of IgA nephropathy, such as abdominal pain or fever, it is still a possible cause of hematuria, especially given the recent upper respiratory tract infection.
- Post-streptococcal glomerulonephritis (PSGN): The patient's recent sore throat and improving symptoms could suggest a post-infectious glomerulonephritis, although the lack of fever, dysuria, or urinary frequency makes this less likely.
- Do Not Miss diagnoses
- Goodpasture syndrome: This autoimmune disease can cause rapidly progressive glomerulonephritis and pulmonary hemorrhage, which would be catastrophic if missed. Although the patient does not have the typical symptoms of Goodpasture syndrome, such as cough or shortness of breath, it is essential to consider this diagnosis due to its potential severity.
- Vasculitis (e.g., ANCA-associated vasculitis): Vasculitis can cause renal disease and hearing loss, and it is crucial to rule out this diagnosis due to its potential for severe complications.
- Rare diagnoses
- Thin basement membrane nephropathy: This condition can cause hematuria and is often associated with a family history of renal disease. However, it is less likely than Alport syndrome given the patient's sensorineural hearing loss.
- Fabry disease: This rare genetic disorder can cause renal disease, hearing loss, and other systemic symptoms. Although it is unlikely, it should be considered in the differential diagnosis due to the patient's combination of symptoms.