Differential Diagnosis for Recurrent Microscopic Hematuria
- Single most likely diagnosis
- D. Thin glomerular basement membrane disease: This condition is characterized by recurrent microscopic hematuria, often with a family history, as seen in this patient. The absence of proteinuria, chronic kidney disease, or end-stage kidney disease, along with normal kidney ultrasound findings, supports this diagnosis. Thin glomerular basement membrane disease typically presents with isolated hematuria and has a benign course, which aligns with the patient's presentation and family history.
- Other Likely diagnoses
- C. Hereditary nephritis (Alport syndrome): Although Alport syndrome can present with hematuria, it often includes additional features such as proteinuria, hearing loss, and eye abnormalities, which are not mentioned in this case. However, some forms of Alport syndrome may present with isolated hematuria, especially in females, making it a consideration.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- None specifically identified in this scenario, as the conditions considered are generally not immediately life-threatening. However, it's crucial to rule out other causes of hematuria that could have significant implications, such as urinary tract malignancies or vasculitis, although these are less likely given the patient's age, lack of other symptoms, and family history.
- Rare diagnoses
- A. Autosomal dominant tubulointerstitial kidney disease: This is a group of disorders that can lead to kidney disease, but they typically present with more severe kidney impairment and additional symptoms beyond isolated hematuria.
- B. Fabry disease: Fabry disease is an X-linked lysosomal storage disorder that can cause a variety of systemic symptoms, including kidney disease. However, it usually presents with additional features such as neuropathic pain, skin lesions, and gastrointestinal symptoms, which are not described in this patient.