Inherited disorders of tubular transport
I would like to introduce this year's nephrology section of Current Opinion in Pediatrics with a case that I saw many years ago. The patient was a 15-year-old female who had a 5-year history of malaise, weakness and constipation. For these complaints, she had been evaluated by her pediatrician who thought that she had a mood disorder and referred her to a psychiatrist. After years of psychiatric evaluation and therapy, she was no better. She was sent to a gastroenterologist at my institution who saw her for constipation and drew laboratory studies revealing a hypokalemic metabolic alkalosis. There was no history of vomiting or diarrhea. The gastroenterologist referred the patient to me. I asked her if she liked pickles and she said that she loved pickles. I then ask her if she drank the juice. She burst into tears, turned to her mother and said that she finally found the doctor that realized that she is not crazy. The diagnosis will be apparent later in this discussion, but the point that I am trying to make is that tubular disorders are not as rare as you might think, and they are often misdiagnosed because of constitutional symptoms.