What Is Kidney Disease?
Learn more about the types, symptoms, and risk factors

What Is Kidney Disease?
Subscribe to Newsletter

Other than chronic kidney disease or acute kidney injury, kidney disease may be characterized as end-stage renal disease or certain hereditary conditions.

There are many different types of hereditary kidney diseases, including congenital kidney and urinary tract malformations, congenital glomerulopathies, and tubular diseases.14

The three hereditary diseases with the highest incidence include:


End-stage Renal Disease

End‐stage kidney or renal disease (ESRD) is the final stage of chronic kidney disease in which the kidneys no longer function well enough to meet the needs of daily life. People with diabetes or hypertension have the highest risk of developing ESRD.

It is important to note that one kidney can fail without any impact on overall renal function. MROI or nuclear medicine studies help to analyze renal function of left and right kidney separately. If kidney function is below 10% of normal and the damage is irreversible, the condition is called end‐stage renal disease or kidney failure. When the kidneys fail, the body retains fluid and harmful waste builds up. Two treatments are available for patients with ESRD: dialysis or transplantation.3

Autosomal dominant polycystic kidney disease (ADPKD)

ADPKD is the most common hereditary kidney disease, with an incidence rate of about 1 in 1000. It is caused by mutations in the genes PKD1 and PKD2. A manifestation usually appears at the age of 30 to 50, and the clinical symptoms are hypertension, nephrolithiasis, and a progressive increase in the volume of both kidneys with appropriate accompaniments (e.g., impairment) due to massive cyst formation. Histologically, ADPKD is characterized by cysts in all areas in the nephron, which can vary in size and morphology. The most common extrarenal manifestations of the disease are cysts in the liver and pancreas.

The treatment of ADPKD is only symptomatic. Diseases that may negatively impair kidney function, like urinary tract infections, diabetes or arterial hypertension are usually treated or managed effectively. The larger the kidney volume, the worse the prognosis for renal function. In advanced stages, dialysis is indicated. A complete cure can be achieved only through kidney transplantation.8

Congenital nephrotic syndrome of the Finnish type (CNF)9

CNF is an autosomal recessive disease, genetically caused by mutation of the nephrin gene NPHS1. The highest incidence is in Finland (1:10,000). The disease is characterized prenatally with an increase in the amniotic fluid alpha‐fetoprotein; at birth by massive proteinuria; and by increasing renal insufficiency after 6 months.

Symptoms include general persistent edema, ascites, and infections, and nutritional disorders are common because of the enormous loss of protein.

CNF is difficult and proceeds until the onset of ESRD. Corticosteroids and immune‐suppressants are ineffective for treatment. Dialysis and transplantation are therapeutic options.

Alport syndrome10

Alport syndrome is an inherited disease resulting in a progressive deterioration of renal function and can affect the inner ear and eye, leading to hearing and vision loss.

Its incidence is 1 in 10,000, and it is caused by mutations in the genes COL4A3, COL4A4, and COL4A5, which encode protein chains of collagen type IV. This leads to a  dysfunction of basal membranes, which is especially critical in the glomerulus, the inner ear, and the eyes.

The disease can be autosomal dominant (5%), autosomal recessive (15%), and is X‐linked in 80% of cases. Boys and men are more affected.

After birth, the urinalysis is abnormal because of proteinuria and hematuria. This is an expression of an incipient chronic glomerulonephritis. Treatment options are ACE inhibitors or AT1 receptor antagonists. This therapy delays the manifestation of terminal kidney failure, but it cannot be stopped. The progressive renal failure may require hemodialysis or transplantation.

Share this page:

1. U.S. Department of Health and Human Services ‐ National Institute of Diabetes and Digestive and Kidney Disease: https://www.niddk.nih.gov/health‐information/kidneydisease
2. https://www.usrds.org/2014/view/v1_05.aspx
3. Johns Hopkins Medicine: http://www.hopkinsmedicine.org/healthlibrary/conditions/kidney_and_urinary_system_disorders/end_stage_renal_disease_esrd_85,P01474/
4. Chronic Kidney Disease: www.diseaseinfosearch.org/result/3996
5. U.S. Department of Health and Human Services – Centers of Disease Control and Prevention: http://www.cdc.gov/diabetes/pubs/pdf/kidney_factsheet.pdf
6. National Health Services UK: https://www.nhs.uk/conditions/kidney‐disease/symptoms/
7. Recreated from: http://guidelines.diabetes.ca/App_Themes/CDACPG/images/Ch29_Tbl4_Stages_of_CKD.jpg

8. https://www.ukaachen.de/fileadmin/files/global/user_upload/Autosomal_dominante_polyzystische_Nierenerkrankung.pdf
9. https://www.orpha.net/data/patho/GB/uk‐CNF.pdf
10. https://ghr.nlm.nih.gov/condition/alport‐syndrome#synonyms
11. https://ercpa.eu/index.php/2017/03/09/discover‐our‐new‐infographic‐on‐ckd/
12. http://www.thelancet.com/campaigns/kidney/
13. National Kidney Foundation (U.S.) Republished with permission.: https://www.kidney.org/atoz/content/about‐chronic‐kidney‐disease
14. https://www.klinikum.uni‐heidelberg.de/Nierenerkrankungen.119146.0.html

This material does not constitute medical advice. It is intended for informational purposes only. Please consult a physician for specific treatment recommendations.