kidney and urinary tract disorders
Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease
Introduction
Nephronophthisis and autosomal dominant tubulointerstitial kidney disease are a group of disorders in which fluid-filled sacs (cysts) develop deep within the kidneys, leading to chronic kidney disease with kidney failure. Nephronophthisis and autosomal dominant tubulointerstitial kidney disease are caused by inherited genetic defects. Symptoms, which include excessive urination and thirst, start in childhood or adolescence for nephronophthisis and in adolescence or adulthood for autosomal dominant tubulointerstitial kidney disease. Diagnosis is based on family history as well as laboratory, imaging, and genetic tests. Both disorders are treated by controlling consequences of kidney dysfunction; children may also require nutritional supplements and growth hormone. Dialysis or Nephronophthisis and autosomal dominant tubulointerstitial kidney disease are a group of hereditary disorders that affect the development of microscopic tubules deep within the kidneys that concentrate the urine and reabsorb sodium. As a result, excessive amounts of sodium are excreted in the urine, resulting in too little sodium in the body and blood. Excessive amounts of acids may also accumulate in blood. The damaged tubules become inflamed and scarred, eventually causing Chronic Kidney Disease severe enough to result in Nephronophthisisis inherited as an autosomal recessive disease, so one defective gene must be received from each parent. It causes symptoms that usually begin during childhood or early adolescence and usually leads to kidney failure in early adolescence. Autosomal dominant tubulointerstitial kidney diseaseis inherited as an autosomal dominant disorder, so a defective gene needs to be inherited from only one parent for disease to occur, and it usually causes symptoms that begin in adulthood. End-stage kidney disease usually occurs between the ages of 30 and 50. Occasionally, the disorder occurs in a person with no family history of kidney disease. These people may have developed the gene defect as a new mutation (the gene becomes abnormal for no apparent reason) or the defect was present but not recognized in one or both parents. 