Renal tubular defects: Pathology review

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Renal tubular defects: Pathology review



Renal tubular defects: Pathology review

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A 58-year-old woman comes to the clinic complaining of headaches, palpitations, and muscle pain for the last 2 months. The patient’s medical history is non-contributory, and she is not currently taking any medications. The patient’s temperature is 37°C (98.6°F), pulse is 80/min, respirations are 16/min, and blood pressure is 186/92 mmHg. The physician prescribes lisinopril 10 mg and recommends a follow up in one month. One month later, the patient returns to the clinic with persistent symptoms. Upon further questioning, the patient admits to consumption of five cups of Egpytian licorice tea daily for the past six months. Laboratory tests are obtained, and the results are shown below:  
Laboratory value  Result 
Blood, serum, plasma 
Potassium   3.2 mEq/L 
 Bicarbonate  44 mEq/L 
 Aldosterone  decreased 
 Renin  decreased 
Which of the following enzymes is most likely inhibited in this patient?


In the Emergency Department, two people came in. One of them is 40 year old Sarah, who came in with rapid, shallow breathing and tachycardia. The other one is 35 year old Alfred, who came in with slow and shallow breathing. An arterial blood gas was taken, along with electrolytes. Results showed that Sarah had low blood pH, bicarbonate and pCO2 levels and her potassium level was also low. Alfred had a high pH, bicarbonate and pCO2 levels, but his potassium level was low. Based on these results, Sarah diagnosed with metabolic acidosis, while Alfred had metabolic alkalosis. Further investigations were done, such as electrolytes and urinalysis. This showed that Sarah had hypophosphatemia and urinalysis showed phosphaturia, aminoaciduria and glucosuria, while Fred had hypokalemia and urinalysis showed hypercalciuria.

Now, the results from the labs of both individuals point towards some kind of a renal tubular defect that’s causing acid-base disorders. Before talking specifics,let’s remember the physiology of the renal tubules. The proximal convoluted tubule or PCT reabsorbs bicarbonate, all glucose, uric acid and amino acids. Apart from this, it also reabsorbs water, potassium, chloride, phosphate and most of the sodium, as well as most of the calcium. PCT also secretes hydrogen and phosphate into the urine. The thin descending loop of Henle reabsorbs water and that’s pretty much it. The thick ascending loop of Henle or TAL on the other hand reabsorbs potassium, chloride and sodium. Now, in order to reabsorb sodium, potassium and chloride, there’s a Na/K/Cl cotransporter or NKCC2, that’s only found in the kidney and its role is to snatch these ions from the urine and reabsorb them. Apart from this, TAL can also reabsorb calcium and most of the magnesium, but doesn’t reabsorb water. Now, the distal convoluted tubule or DCT reabsorbs sodium and chloride, through a sodium-chloride cotransporter, as well as calcium and some magnesium. Again, it doesn’t reabsorb water. Finally, the collecting tubule is regulated by aldosterone and reabsorbs sodium in exchange for potassium and hydrogen. Now, aldosterone acts on mineralocorticoid receptors and in the principal cells of the collecting tubule, leads to potassium secretion, while in the 𝛼-intercalated cells, leads to hydrogen secretion.


Renal tubular defects refer to a group of disorders that affect the tubules of the kidneys. These tubules are responsible for filtering waste products from the blood, reabsorbing essential nutrients, and regulating the balance of electrolytes in the body. When these tubules are damaged or malfunctioning, they can lead to a variety of symptoms and complications, such as electrolyte imbalances, acid-base disturbances, and kidney failure. Some examples of renal tubular defects include Fanconi syndrome, Bartter syndrome, and Gitelman syndrome.

In Fanconi syndrome, there is a dysfunction of the proximal convoluted tubule (PCT), which results in the excretion of all substances normally reabsorbed by the PCT, such as glucose, bicarbonate, etc. In Bartter syndrome, there are defects in Na+/K+/2Cl- cotransporter in the thick ascending loop of Henle, which lead to metabolic alkalosis, hypokalemia, and hypercalciuria. Finally, in Gitelman syndrome, there is defective reabsorption of sodium chloride in the distal convoluted tubules (DCT), which leads to metabolic alkalosis, hypomagnesemia, hypokalemia, and hypocalciuria. Treatment options may include medications, dietary changes, and in some cases, kidney transplants.


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  2. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  3. "Practical Renal Pathology, A Diagnostic Approach E-Book" Elsevier Health Sciences (2012)
  4. "Physiology E-Book" Elsevier Health Sciences (2017)
  5. "The Renal System" Churchill Livingstone (2010)
  6. "Nephrolithiasis related to inborn metabolic diseases" Pediatric Nephrology (2009)
  7. "Hnf4a deletion in the mouse kidney phenocopies Fanconi renotubular syndrome" JCI Insight (2018)
  8. "Fanconi Syndrome" Pediatric Clinics of North America (2019)

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