Most renal disorders are not hereditary, however those kidney disorders that are hereditary can be can be divided into six general categories: 1) malformations of the kidney and urinary tract; 2) cystic diseases of the kidney; 3) disorders of the kidney’s main filter (glomerular disorders); 4) diseases of the kidney’s tubes (tubular diseases); 5) inborn errors of metabolism; and 6) kidney cancers.
Some renal conditions have known genetic, and therefore hereditary, components and a family history of one of these kidney disorders can increase your chances of developing that disease.
When Should I Suspect a Kidney Disorder May Be Hereditary?
If you have a personal or family history of two or more of any of the following, a genetic consultation may be appropriate for you:
- Renal disease
- Learning disabilities or mental retardation
- Unusual birth marks
- Hearing loss
- Visual disorders
- Cardiac disease
- Neurological disease
- Skeletal abnormalities
- Genital abnormalities
- Genetic condition
What Are the Most Common Hereditary Kidney Disorders?
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Autosomal dominant polycystic kidney disease is a generally late-onset condition that presents with progressive cyst development and enlarged kidneys, hypertension, abnormal kidney function, and renal pain. Other manifestations of ADPKD may include multiple liver cysts, intracranial aneurysms, and cardiac abnormalities. ADPKD has been estimated to occur in approximately 1:400 to 1:1000 individuals of European ancestry and about 90% of individuals with ADPKD have a family history of the condition.
Tuberous Sclerosis (TS)
TS is a renal condition that affects many of the body’s systems including the skin, central nervous system, kidneys, heart, lungs, and eyes. Five different renal lesions occur in TS: benign fatty muscle tumors (angiomyolipomas) which occur in 70-80% of individuals, 20% of individuals will develop cysts, and less than 1% will develop malignant angiomyolipomas, renal cell cancer, and/or benign tissue overgrowths (oncocytomas). Approximately one-third of TS is familial and inherited in an autosomal dominant fashion and two-thirds of TS is sporadic and develops due to a de novo mutation.
Alport syndrome is a kidney condition which involves inflammation of the kidneys leading to chronic renal failure (hereditary nephritis), sensorineural deafness that can occur in childhood, adolescence, or adulthood, and eye abnormalities which may include abnormal lenses or cataracts. One of the characteristic findings of Alport syndrome is blood in the urine that may not be detectable by the naked eye (microcytic hematuria). Alport syndrome can be inherited in an X-linked recessive (80%), autosomal recessive (15%), or autosomal dominant (5%) pattern and different genes are involved with each type of inheritance.
Von-Hippel Lindau Syndrome (VHL)
VHL is a hereditary cancer syndrome that predisposes an individual to develop tumors in a number of organs including the kidneys, cerebellum, spine, eye, inner ear, adrenal glands and pancreas. VHL is suspected in individuals with characteristics such as cerebellar tumors (hemangioblastomas), renal cysts, adrenal gland tumors (pheochromocytomas), or renal cell cancer. Renal cell (kidney) cancer occurs in more than 40% of individuals with VHL and is the leading cause of mortality. VHL occurs once in every 36,000 live births and is caused by mutations in the VHL gene.
Is There a Genetic Test for Hereditary Kidney Disorders?
Genetic testing is available for some hereditary kidney conditions.
The family history and kidney conditions in a family are used to determine the likelihood of a hereditary kidney syndrome and, if a syndrome is suspected, which gene(s) should be analyzed.
It is generally most informative if a relative who has had kidney disease is tested first, to determine if an identifiable gene mutation exists in the family. If a mutation is identified in an affected relative, at-risk family members may elect to be tested for the familial mutation; those testing positive have a significantly increased risk of developing kidney disease, while those relatives testing negative may be told that they have the general population risk.
For More Information
Please use this section as background education. It is not a substitute for a clinical visit to our Center or discussion of a possible hereditary condition with your physician.
Make an appointment with your physician to discuss your risk of a hereditary kidney condition.
Make an appointment with the Center for Medical Genetics by calling 847.570.1029.
E-mail this page to a friend or loved one that may be at risk.