What condition is caused by a proximal tubular reabsorption defect leading to polyuria, acidosis, growth failure, and electrolyte imbalances?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

The condition characterized by a proximal tubular reabsorption defect, resulting in symptoms such as polyuria, acidosis, growth failure, and electrolyte imbalances, is indeed Fanconi's syndrome. This syndrome primarily affects the kidneys' ability to reabsorb substances such as glucose, amino acids, phosphate, and bicarbonate in the proximal convoluted tubule. As a result, patients experience a loss of these essential substances in the urine, leading to various complications.

Polyuria occurs because the kidneys fail to properly reabsorb water and solutes, ultimately leading to increased urine output. The impaired reabsorption of bicarbonate contributes to metabolic acidosis, as the loss of bicarbonate exceeds the kidney's ability to compensate. Growth failure can arise due to malabsorption of nutrients and electrolytes, causing deficiencies that affect overall health and development.

Electrolyte imbalances are commonly seen as a result of the defects in the renal tubular function, impacting the balance of ions such as sodium and potassium. All these features align with the profile of Fanconi's syndrome, which differentiates it from other conditions like diabetes mellitus or diabetes insipidus, which have distinct etiologies and symptomatology unrelated to proximal tubular reabsorption defects. Renal tubular

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy