Renal tubular defects Quiz: Ace Your Exams
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An 8-year-old boy is brought to the clinic by his parents due to worsening academic performance in school and a bilateral tremor in the hands. The patient’s parents state that he has been doing worse in school for the past 6 months, and they first noticed the tremor 2 months ago. Family history includes an older brother who died at the age of 20 from severe liver disease. Vital signs are within normal limits. Physical examination shows splenomegaly and hepatomegaly. Slit lamp examination is performed and laboratory tests are obtained, and the results are shown below. Urinalysis shows phosphaturia, aminoaciduria, and glucosuria. Which of the following structures is most likely affected in the renal manifestation of this patient’s disease?
Reproduced from: Wikipedia
Reproduced from: Wikipedia
| Laboratory value | Result |
| Blood, serum, plasma | |
| Sodium | 140 mEq/L |
| Potassium | 3.1 mEq/L |
| Chloride | 107 mEq/L |
| Bicarbonate | 18 mEq/L |
| Phosphorous (inorganic) | 2 mg/dL |
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