Differential Diagnosis for a 13-year-old Boy with Raised Creatinine, Abdominal Pain, One Episode of Seizure, and Hypertension
Single Most Likely Diagnosis
- Chronic Kidney Disease (CKD) or Acute Kidney Injury (AKI): The combination of raised creatinine, abdominal pain, and hypertension points towards a renal issue. The seizure could be a result of electrolyte imbalances or hypertension, both of which are complications of kidney disease.
Other Likely Diagnoses
- Nephrotic Syndrome: Characterized by significant proteinuria, hypoalbuminemia, and edema. Hypertension and elevated creatinine can occur, and seizures might be seen due to complications like thrombosis or severe electrolyte disturbances.
- Glomerulonephritis: An inflammation of the glomeruli that can present with hypertension, hematuria, and elevated creatinine. Seizures could occur due to hypertensive encephalopathy.
- Vasculitis (e.g., Henoch-Schönlein Purpura): Can cause abdominal pain, renal involvement leading to elevated creatinine, and hypertension. Seizures are less common but can occur due to CNS involvement.
Do Not Miss Diagnoses
- Hemolytic Uremic Syndrome (HUS): Typically presents with the triad of hemolytic anemia, acute kidney injury, and thrombocytopenia. It's crucial to consider, especially if there's a history of diarrheal illness, as it can lead to severe complications if not promptly treated.
- Posterior Reversible Encephalopathy Syndrome (PRES): Associated with hypertension, can cause seizures and has a specific appearance on MRI. It's a diagnosis that must be considered to avoid missing a potentially reversible condition.
- Sickle Cell Disease with Renal Crisis: Patients with sickle cell disease can develop renal complications, including acute kidney injury, which could explain the elevated creatinine and hypertension. Seizures could occur due to various complications, including stroke.
Rare Diagnoses
- Alport Syndrome: A genetic disorder characterized by kidney disease, hearing loss, and eye abnormalities. While it's a rare condition, it could explain the renal findings and potentially the seizures if there's associated CNS involvement.
- Fabry Disease: An X-linked lysosomal storage disorder that can cause renal failure, hypertension, and neurological symptoms, including seizures. It's rare but should be considered in the differential diagnosis of a young patient with multi-system involvement.
- Atypical Hemolytic Uremic Syndrome (aHUS): A rare condition that presents similarly to HUS but without the typical diarrheal illness trigger. It's crucial to diagnose promptly due to its severe prognosis and the availability of specific treatments.