Clinical Quiz #2:


 

History:

A 15 years old boy presented to the emergency department because of history of abdominal pain and nausea since 6 months. The GP started Proton Pump Inhibitors (PPI) and anti-emetic medication because of suspicion of his history of autism spectrum disorders and the known frequent gastro-intestinal symptoms in these children. No history of hematuria or dysuria.
BP was 150/86 mm/hg. Laboratory results showed Hb 12.6 g/dl, 9170 10*6/l wbc, 224.000 10*6/l thrombocyte, sedimentatie 40 mm, crp 141.5 mg/l. K 5.96 mmol/l, bicarbonaat 15 mmol/l, Ca 2.68 mmol/l, creatinine 8.08 mg/dl, ureum 129 mg/dl, uric acid 14.1 mg/dl. LDH 463 U/l.

Urine test showed no proteinuria (Totaal protein/creatinine ratio 0.10g/g creat.), No hematuria or pyuria. Culture negatif.
 Abdominal Ultrasound (US) showed no hepatosplenomegaly but bilateral hyperechogenic kidney with impressive nephromegaly.

 

Question: What is the most probable diagnosis?

Multiple choice:

  • Polycystic kidney disease
  • Lymphoproliferative disease
  • Metabolic storage disease
  • CAKUT

 

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