Severely affected polycystic kidneys removed at time of transplantation
Specialty
Nephrology
Symptoms
Abdominal pain[1]
Types
ADPKD[2] and ARPKD[3]
Diagnostic method
MRI, CT scan, Ultrasound[1]
Treatment
Antihypertensives, Life style management[4]
Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder[5][6] in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney.[7] These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood.[8] Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well.
PKD is caused by abnormal genes that produce a specific abnormal protein; this protein has an adverse effect on tubule development. PKD is a general term for two types, each having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The abnormal gene exists in all cells in the body; as a result, cysts may occur in the liver, seminal vesicles, and pancreas. This genetic defect can also cause aortic root aneurysms, and aneurysms in the circle of Willis cerebral arteries, which if they rupture, can cause a subarachnoid hemorrhage.
Diagnosis may be suspected from one, some, or all of the following: new onset flank pain or red urine; a positive family history; palpation of enlarged kidneys on physical exam; an incidental finding on abdominal sonogram; or an incidental finding of abnormal kidney function on routine lab work (BUN, serum creatinine, or eGFR). Definitive diagnosis is made by abdominal CT exam.
Complications include hypertension due to the activation of the renin–angiotensin–aldosterone system (RAAS), frequent cyst infections, urinary bleeding, and declining renal function. Hypertension is treated with angiotensin converting enzyme inhibitors (ACEIs) or angiotensin receptor blockers (ARBs). Infections are treated with antibiotics. Declining renal function is treated with renal replacement therapy (RRT): dialysis and/or transplantation. Management from the time of the suspected or definitive diagnosis is by an appropriately trained doctor.
^ abcCite error: The named reference poly was invoked but never defined (see the help page).
^"Autosomal Dominant Polycystic Kidney Disease". National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Retrieved 3 January 2018.
^"Autosomal Recessive Polycystic Kidney Disease". National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Retrieved 3 January 2018.
^"What Is Polycystic Kidney Disease?". National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Retrieved 3 January 2018.
^Kimberling WJ, Pieke-Dahl SA, Kumar S (November 1991). "The genetics of cystic diseases of the kidney". Seminars in Nephrology. 11 (6): 596–606. PMID 1767134.
^"polycystic kidney disease" at Dorland's Medical Dictionary
Autosomal recessive polycystickidneydisease (ARPKD) is the recessive form of polycystickidneydisease. It is associated with a group of congenital fibrocystic...
Autosomal Dominant PolycysticKidneydisease and how this disease is genetic. They go on to say "Autosomal dominant polycystickidneydisease (ADPKD) is the...
autosomal-dominant polycystickidneydisease, with a prevalence of 1 in 400 to 1000, and accounts for 8–10% of all cases of end-stage renal disease. The much rarer...
hospitalization. Causes of chronic kidneydisease include diabetes, high blood pressure, glomerulonephritis, and polycystickidneydisease. Risk factors include a...
syndrome. Causes of chronic kidney failure include diabetes, high blood pressure, nephrotic syndrome, and polycystickidneydisease. Diagnosis of acute failure...
recessive polycystickidneydisease (ARPKD) is primarily diagnosed in infants and young children while autosomal dominant polycystickidneydisease (ADPKD)...
dominant polycystickidneydisease, a severe hereditary disorder of the kidneys characterised by the development of renal cysts and severe kidney dysfunction...
A polycysticdisease is a disease that involves multiple cysts scattered throughout an organ, including: PolycystickidneydiseasePolycystic liver disease...
receptor potential polycystic) is a family of transient receptor potential ion channels which when mutated can cause polycystickidneydisease. TRPP subunits...
Traditional Persian, which has a more pronounced muzzle. Hereditary polycystickidneydisease (PKD) is prevalent in the breed, affecting almost half of the...
of polycystickidneydisease (PKD). Gross deletions affecting both genes may account for the 2% of individuals with TSC who also develop polycystic kidney...
are not well understood. Caroli disease is also associated with liver failure and polycystickidneydisease. The disease affects about one in 1,000,000...
shrunken kidney, unlike that of polycystickidneydisease. There are two known forms of medullary cystic kidneydisease, mucin-1 kidneydisease 1 (MKD1)...
renal tubular diseases include acute tubular necrosis and polycystickidneydisease. The nephron is the functional unit of the kidney. This means that...
Mutations in this gene have been associated with autosomal dominant polycystickidneydisease. Polycystin 2 has been shown to interact with the proteins TRPC1...
dominant polycystickidneydisease. It can also be found in a number of patients with the following: Tuberous sclerosis complex medullary cystic kidney disease...
Dystocia. An abnormal labor due to large-domed skulls. Feline polycystickidneydisease (PKD). Exotic Shorthairs, as well as Persians and other Persian-derived...
years. Cairn Terriers can be affected by polycystickidneydisease. Multiple small cysts are found in the kidneys. Cysts are present by the age of six weeks...
proliferation. Studies in several animal models of polycystickidneydisease have shown a reduction in kidney size and cyst volume after treatment with specific...
sirenomelia also present with BRA.It is associated with childhood polycystickidneydisease which is autosomal recessive in origin Other anomalies of the...
renal cysts are seen in the cystic kidneydiseases, which include polycystickidneydisease and medullary sponge kidney. Renal cysts are classified by malignant...
of polycystickidneydisease. The FDA granted Jynarque an orphan drug designation in April 2012, for the treatment of autosomal dominant polycystic kidney...
bones and joint diseases, especially when both parents were of the folded-ear form, as covered in detail below. Polycystickidneydisease (PKD) is prevalent...
Retrieved 2019-07-01. Swanson K (November 2021). "Autosomal recessive polycystickidneydisease". American Journal of Obstetrics and Gynecology. 225 (5). Elsevier...
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