A 5-year-old boy with refractory rickets, polyuria, and hypokalemic metabolic alkalosis: Questions

Excerpt

A 5-year-old boy presented to the pediatric nephrology clinic with history suggestive of polyuria, excessive thirst, nocturia, inadequate weight gain, and bony deformities noticed for the past 1 year. The child was dry by night 2 years ago and was currently passing urine 8 times during the day and 3 times at night. He also had complaints of bedwetting for the past 1 month. He had evident growth retardation compared with peers of his age. The developmental milestones were normal for age. There was no history of fractures, flank pain, urinary tract infection (UTI), red-colored urine, or stones in the urine. The parents did not narrate any history suggestive of malabsorption or recurrent infections. There was no history of ear discharge, rash over the skin or scalp, jaundice, constipation, neck flop, paralysis, cramps, tiredness, vomiting, tetany, seizures, night blindness, photophobia, or abdominal distension. His parents denied any other intake of diuretics, other drugs, or traditional medications. He was the first-born child of non-consanguineous parents with no similar complaints in any family members. The child has a 3-year-old brother who is asymptomatic. There was no history of renal calculi in the family. …