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 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
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 
may be needed to address 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.
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.
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 
. Other organs are not affected. 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 flares (attacks)... read more 
.
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.
Computed tomography Computed tomography There are a variety of tests that can be used in the evaluation of a suspected kidney or urinary tract disorder. (See also Overview of the Urinary Tract.) X-rays are usually not helpful in evaluating... read more (CT) and ultrasonography Ultrasonography There are a variety of tests that can be used in the evaluation of a suspected kidney or urinary tract disorder. (See also Overview of the Urinary Tract.) X-rays are usually not helpful in evaluating... read more are the imaging tests usually used to detect cysts. Genetic testing may confirm the diagnosis.
Treatment of Nephronophthisis and ADTKD
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 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 blood. 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, 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 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 may be needed.
More Information
The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
American Kidney Fund (AKF): Information about kidney disease, kidney transplant, and needs-based financial assistance to help manage medical expenses
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): General information on kidney diseases, including research discoveries, statistics, and community health and outreach programs
National Kidney Foundation (NKF): Information on everything from the basics of kidney function to access to treatment and support for people with kidney disease
Drugs Mentioned In This Article
| Generic Name | Select Brand Names |
|---|---|
allopurinol |
Aloprim, Zyloprim |
