Merck Manual

Please confirm that you are not located inside the Russian Federation

honeypot link

Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease

(ADTKD)

By

Enrica Fung

, MD, MPH, Loma Linda University School of Medicine

Last full review/revision Apr 2021| Content last modified Apr 2021
CLICK HERE FOR THE PROFESSONAL VERSION
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 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 renal disease (ESRD, 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 chronic kidney disease 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.

Autosomal dominant tubulointerstitial kidney disease is inherited as an autosomal dominant disorder, so a defective gene need be inherited from only one parent for disease to occur, and it usually causes symptoms that begin in adulthood. 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

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, chronic kidney disease 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.

In autosomal dominant tubulointerstitial kidney disease, the symptoms develop during adolescence or early adulthood. Excessive thirst and abnormal urine production are not as severe as in nephronophthisis. People may have high blood pressure High Blood Pressure High blood pressure (hypertension) is persistently high pressure in the arteries. Often no cause for high blood pressure can be identified, but sometimes it occurs as a result of an underlying... read more High Blood Pressure . Other organs are not affected. Chronic kidney disease usually occurs between the ages of 30 and 70. Some people develop gout Gout Gout is a disorder in which deposits of uric acid crystals accumulate in the joints because of high blood levels of uric acid (hyperuricemia). The accumulations of crystals cause flare-ups ... read more Gout .

Diagnosis

  • 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

  • Controlling high blood pressure

  • Managing anemia

  • Maintaining appropriate levels of sodium and uric acid in blood

Treatment includes controlling high blood pressure High Blood Pressure High blood pressure (hypertension) is persistently high pressure in the arteries. Often no cause for high blood pressure can be identified, but sometimes it occurs as a result of an underlying... read more High Blood Pressure and anemia Overview of Anemia Anemia is a condition in which the number of red blood cells is low. Red blood cells contain hemoglobin, a protein that enables them to carry oxygen from the lungs and deliver it to all parts... read more , as well as the levels of sodium and uric acid in the body. Children with slowed growth may need nutritional supplements or growth hormone. Allopurinol may be given to people who develop gout. Particularly in nephronophthisis, a large daily intake of fluids and salt (sodium) is needed to compensate for the excessive excretion of sodium and the production of large volumes of dilute urine. When end-stage kidney failure occurs, chronic kidney disease 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 develops, and dialysis Dialysis Dialysis is an artificial process for removing waste products and excess fluids from the body, a process that is needed when the kidneys are not functioning properly. There are a number of reasons... read more Dialysis or kidney transplantation Kidney Transplantation Kidney transplantation is the removal of a healthy kidney from a living or recently deceased person and then its transfer into a person with end-stage kidney failure. (See also Overview of Transplantation... read more Kidney Transplantation may be needed.

More Information

The following are some English-language resources that 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
ZYLOPRIM
NOTE: This is the Consumer Version. DOCTORS: CLICK HERE FOR THE PROFESSONAL VERSION
CLICK HERE FOR THE PROFESSONAL VERSION
Others also read
Test your knowledge
Urethritis
Urethritis is an infection of the urethra, the tube that transports urine out of the body from the bladder. Many organisms can cause urethritis. Which of the following is an organism that commonly causes urethritis in men, but is more likely to infect reproductive organs in women?  
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID

Also of Interest

Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
TOP