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Familial Renal Dysplasia With Sodium Wasting and Hypokalemic Alkalosis

Stuart H. Walker, MD; Harlan I. Firminger, MD
Am J Dis Child. 1974;127(6):882-887. doi:10.1001/archpedi.1974.02110250108017.
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The fatal illnesses of two siblings were characterized by failure to thrive; impairment of renal clearance and concentrating ability; metabolic alkalosis; and sodium, potassium, and chloride depletion. Pathological examination of the kidneys of each infant revealed immaturity and dysplasia of almost all glomeruli and tubules. In these patients, the pathogenic defect appears to be a failure of sodium reabsorption in the dysplastic proximal tubules of a genetically abnormal kidney. Presumably, the resultant delivery of a large sodium load to the dysplastic distal tubules resulted in excessive potassium and hydrogen ion exchange and secretion.

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