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Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease

(ADTKD)

By

Enrica Fung

, MD, MPH, Loma Linda University School of Medicine

Reviewed/Revised Apr 2023
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Topic Resources

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 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 (CKD) Chronic Kidney Disease Chronic kidney disease is a slowly progressive (months to years) decline in the kidneys’ ability to filter metabolic waste products from the blood. Major causes are diabetes and high blood pressure... read more severe enough to result in end-stage kidney disease (ESKD, or end-stage kidney failure) Chronic Kidney Disease Chronic kidney disease is a slowly progressive (months to years) decline in the kidneys’ ability to filter metabolic waste products from the blood. Major causes are diabetes and high blood pressure... read more . Although the disorders are similar, there are some key differences, especially the inheritance pattern and the age at which CKD becomes severe.

Nephronophthisis is 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.

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Autosomal dominant tubulointerstitial kidney disease is 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.

Symptoms of Nephronophthisis and ADTKD

A person starts to produce excessive amounts of urine and becomes excessively thirsty because the kidneys become unable to concentrate urine and conserve sodium.

In nephronophthisis, the symptoms begin in children age one year or older. Growth is slowed, and children may have weakened bones. People with nephronophthisis may have eye disorders, liver disorders, and intellectual disability (mental retardation). Later in childhood, CKD Chronic Kidney Disease Chronic kidney disease is a slowly progressive (months to years) decline in the kidneys’ ability to filter metabolic waste products from the blood. Major causes are diabetes and high blood pressure... read more may cause anemia, high blood pressure, nausea, and weakness.

Diagnosis of Nephronophthisis and ADTKD

  • Family history

Family history of this type of kidney disease is an important clue to the diagnosis. Laboratory tests indicate poor kidney function, dilute urine, and possibly a low level of sodium or potassium and high level of uric acid in the blood.

Treatment of Nephronophthisis and ADTKD

  • Controlling high blood pressure

  • Managing anemia

  • Maintaining appropriate levels of sodium and uric acid in blood

More Information

The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

Drugs Mentioned In This Article

Generic Name Select Brand Names
Aloprim, Zyloprim
NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
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