Autosomal Dominant Polycystic Kidney Disease

Polycystic kidney disease (PKD) is an inherited genetic disorder leading to the development of numerous fluid-filled cysts in the kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys. The 2 main types of PKD are autosomal dominant polycystic kidney disease (ADPKD), which is often diagnosed in adulthood, and autosomal recessive polycystic kidney disease Autosomal Recessive Polycystic Kidney Disease Polycystic kidney disease (PKD) is an inherited genetic disorder leading to the development of numerous fluid-filled cysts in the kidneys. Autosomal recessive polycystic kidney disease is primarily characterized by cystic dilatations of the renal collecting ducts and intrahepatic bile duct dilatation with hepatic fibrosis. Autosomal Recessive Polycystic Kidney Disease ( ARPKD ARPKD Polycystic kidney disease (PKD) is an inherited genetic disorder leading to the development of numerous fluid-filled cysts in the kidneys. Autosomal recessive polycystic kidney disease is primarily characterized by cystic dilatations of the renal collecting ducts and intrahepatic bile duct dilatation with hepatic fibrosis. Autosomal Recessive Polycystic Kidney Disease), which is often diagnosed antenatally or shortly after birth. ADPKD patients commonly present with hypertension Hypertension Hypertension, or high blood pressure, is a common disease that manifests as elevated systemic arterial pressures. Hypertension is most often asymptomatic and is found incidentally as part of a routine physical examination or during triage for an unrelated medical encounter. Hypertension, hematuria, and flank pain Pain Pain has accompanied humans since they first existed, first lamented as the curse of existence and later understood as an adaptive mechanism that ensures survival. Pain is the most common symptomatic complaint and the main reason why people seek medical care. Physiology of Pain. Extrarenal manifestations include intracerebral aneurysm Aneurysm An aneurysm is a bulging, weakened area of a blood vessel that causes an abnormal widening of its diameter > 1.5 times the size of the native vessel. Aneurysms occur more often in arteries than in veins and are at risk of dissection and rupture, which can be life-threatening. Extremity and Visceral Aneurysms, hepatic and pancreatic cysts, and cardiac valvular abnormalities. Diagnosis is by history, physical exam, and ultrasonography. Management requires a multidisciplinary approach and many patients require renal replacement therapy. The end goal is to slow the progression of renal disease by controlling hypertension Hypertension Hypertension, or high blood pressure, is a common disease that manifests as elevated systemic arterial pressures. Hypertension is most often asymptomatic and is found incidentally as part of a routine physical examination or during triage for an unrelated medical encounter. Hypertension, proteinuria, and symptoms. ADPKD prognosis is dependent on a variety of factors. A cerebral aneurysm Aneurysm An aneurysm is a bulging, weakened area of a blood vessel that causes an abnormal widening of its diameter > 1.5 times the size of the native vessel. Aneurysms occur more often in arteries than in veins and are at risk of dissection and rupture, which can be life-threatening. Extremity and Visceral Aneurysms is a complication associated with a particularly poor prognosis.

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Epidemiology and Etiology

Epidemiology

Polycystic kidney disease (PKD) affects about 500,000 people in the United States. One of the 2 main types of PKD is autosomal dominant polycystic kidney disease (ADPKD).

  • Most commonly inherited kidney disease
  • Prevalence: 1 in 1,000 live births
  • Cause of CKD CKD Chronic kidney disease (CKD) is kidney impairment that lasts for ≥ 3 months, implying that it is irreversible. Hypertension and diabetes are the most common causes; however, there are a multitude of other etiologies. In the early to moderate stages, CKD is usually asymptomatic and is primarily diagnosed by laboratory abnormalities. Chronic Kidney Disease in 5% of annual dialysis Dialysis Renal replacement therapy refers to dialysis and/or kidney transplantation. Dialysis is a procedure by which toxins and excess water are removed from the circulation. Hemodialysis and peritoneal dialysis (PD) are the two types of dialysis, and their primary difference is the location of the filtration process (external to the body in hemodialysis versus inside the body for PD). Overview and Types of Dialysis initiation
  • Decline in renal function often noted by the 4th decade of life

Etiology

  • Autosomal dominant (positive family history)
  • Either a mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations of: 
    • PKD1 (encodes polycystin-1) on chromosome 16 OR
    • PKD2 (encodes polycystin-2) on chromosome 4

Clinical Presentation

The age of symptom onset is variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables, but typically in adulthood. Patients with PKD1 mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations present with symptoms earlier than patients with PKD2.

Renal manifestations

  • Hypertension
  • Hematuria
  • Proteinuria
  • Kidney function impairment
  • Flank or abdominal pain Pain Pain has accompanied humans since they first existed, first lamented as the curse of existence and later understood as an adaptive mechanism that ensures survival. Pain is the most common symptomatic complaint and the main reason why people seek medical care. Physiology of Pain
  • Enlarged, palpable kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys on physical exam (patients with PKD1 mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations have larger kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys and more cysts than patients with PKD2)
  • Recurrent urinary tract infections Urinary tract infections Urinary tract infections (UTIs) represent a wide spectrum of diseases, from self-limiting simple cystitis to severe pyelonephritis that can result in sepsis and death. Urinary tract infections are most commonly caused by Escherichia coli, but may also be caused by other bacteria and fungi. Urinary Tract Infections (UTIs)
  • Nephrolithiasis Nephrolithiasis Nephrolithiasis is the formation of a stone, or calculus, anywhere along the urinary tract caused by precipitations of solutes in the urine. The most common type of kidney stone is the calcium oxalate stone, but other types include calcium phosphate, struvite (ammonium magnesium phosphate), uric acid, and cystine stones. Nephrolithiasis 

Extrarenal manifestations

  • Cerebral aneurysm Aneurysm An aneurysm is a bulging, weakened area of a blood vessel that causes an abnormal widening of its diameter > 1.5 times the size of the native vessel. Aneurysms occur more often in arteries than in veins and are at risk of dissection and rupture, which can be life-threatening. Extremity and Visceral Aneurysms:
    • 4 times higher risk than the general population
    • Can rupture with subarachnoid hemorrhage Subarachnoid Hemorrhage Subarachnoid hemorrhage (SAH) is a type of cerebrovascular accident (stroke) resulting from intracranial hemorrhage into the subarachnoid space between the arachnoid and the pia mater layers of the meninges surrounding the brain. Most SAHs originate from a saccular aneurysm in the circle of Willis but may also occur as a result of trauma, uncontrolled hypertension, vasculitis, anticoagulant use, or stimulant use. Subarachnoid Hemorrhage (SAH) or intracerebral hemorrhage Intracerebral Hemorrhage Intracerebral hemorrhage (ICH) refers to a spontaneous or traumatic bleed into the brain parenchyma and is the 2nd-most common cause of cerebrovascular accidents (CVAs), commonly known as stroke, after ischemic CVAs. Intracerebral Hemorrhage (ICH)
    • The most serious risk factor associated with ADPKD
  • Benign, asymptomatic hepatic cysts:
    • Higher prevalence as age increases
    • Can be complicated by cyst infection or hemorrhage
  • Benign, asymptomatic pancreatic cysts
  • Seminal vesicle cysts
  • Cardiac valvular abnormalities:
    • Most commonly mild mitral valve prolapse Mitral valve prolapse Mitral valve prolapse (MVP) is the most common cardiac valvular defect, and is characterized by bulging of the mitral valve (MV) cusps into the left atrium (LA) during systole. Mitral valve prolapse is most commonly due to idiopathic myxomatous degeneration. Patients are typically asymptomatic. Mitral Valve Prolapse or aortic regurgitation Aortic regurgitation Aortic regurgitation (AR) is a cardiac condition characterized by the backflow of blood from the aorta to the left ventricle during diastole. Aortic regurgitation is associated with an abnormal aortic valve and/or aortic root stemming from multiple causes, commonly rheumatic heart disease as well as congenital and degenerative valvular disorders. Aortic Regurgitation
    • Often asymptomatic with a mild murmur
  • Colonic diverticula
  • Abdominal wall and inguinal hernias

Diagnosis

Diagnosis is made with the combination of positive family history and the presence of multiple, bilateral renal cysts.

Physical exam

  • Assess for palpable kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys.
  • Assess for syndromic features and extrarenal manifestations.

Imaging studies

  • Ultrasonography of abdomen to detect renal cysts (1st line)
  • CT or MRI:
    • If ultrasound findings inconclusive
    • Can detect cysts of smaller size
    • Determines total kidney volume (helps assess the risk of kidney disease progression)
Ultrasound of autosomal dominant polycystic kidney disease

Ultrasound of autosomal dominant polycystic kidney disease (ADPKD):
sagittal gray-scale ultrasound scan of both kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys shows numerous cystic, space-occupying lesions with marked internal echogenic debris and thick septa, representing the numerous infected cysts

Image: “Value of ultrasound-guided irrigation and drainage of refractory pyocysts in ADPKD” by Saedi D, Varedi P, Varedi P, Mahmoodi S, Gashti HN, Darabi M. License: CC BY 2.0

Genetic testing

  • If imaging tests uncertain
  • If atypical features:
    • Early, severe ADPKD
    • Renal failure without significantly enlarged kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys
    • The disease is significantly discordant with family members.
    • Significant asymmetry of disease between each kidney
    • ADPKD without a family history
  • If information is needed for reproductive counseling

Management and Prognosis

Management approach

Goals:

  • To slow renal disease progression
  • To control blood pressure and lower cardiovascular risk

Treatment measures:

  • ACE inhibitors and ARBs for blood pressure control
  • Restrict dietary sodium.
  • Increase fluid intake.
  • Manage complications (e.g., UTIs, nephrolithiasis).
  • Tolvaptan for high-risk patients:
    • Blocks the positive effect of vasopressin on cyst production
    • Can decrease cyst growth 

For end-stage renal disease (ESRD):

  • Hemodialysis or peritoneal dialysis Dialysis Renal replacement therapy refers to dialysis and/or kidney transplantation. Dialysis is a procedure by which toxins and excess water are removed from the circulation. Hemodialysis and peritoneal dialysis (PD) are the two types of dialysis, and their primary difference is the location of the filtration process (external to the body in hemodialysis versus inside the body for PD). Overview and Types of Dialysis
  • Kidney transplantation

Screening

  • Benefits of genetic counseling and screening for patients and family: 
    • Information on diagnosis and prevention/treatment of complications
    • Family planning (risks of passing condition to offspring)
    • Possible kidney transplant donor among relatives
  • Screening for intracerebral aneurysms with presymptomatic imaging (MRA or CT angiography):
    • Family history of intracranial aneurysm Aneurysm An aneurysm is a bulging, weakened area of a blood vessel that causes an abnormal widening of its diameter > 1.5 times the size of the native vessel. Aneurysms occur more often in arteries than in veins and are at risk of dissection and rupture, which can be life-threatening. Extremity and Visceral Aneurysms
    • Plans to have major surgery
    • High-risk occupations (ruptured aneurysm Aneurysm An aneurysm is a bulging, weakened area of a blood vessel that causes an abnormal widening of its diameter > 1.5 times the size of the native vessel. Aneurysms occur more often in arteries than in veins and are at risk of dissection and rupture, which can be life-threatening. Extremity and Visceral Aneurysms could put other lives at risk, e.g., pilot)
    • Requires anticoagulation (increased risk of bleeding)

Prognosis

  • Varies from person to person
  • Generally a slow rate of disease progression
  • About ½ of patients ≥ 75 years of age require dialysis Dialysis Renal replacement therapy refers to dialysis and/or kidney transplantation. Dialysis is a procedure by which toxins and excess water are removed from the circulation. Hemodialysis and peritoneal dialysis (PD) are the two types of dialysis, and their primary difference is the location of the filtration process (external to the body in hemodialysis versus inside the body for PD). Overview and Types of Dialysis and/or kidney transplantation.
  • Most patients die from cardiac causes.
  • Particularly poor prognosis with a ruptured cerebral aneurysm Aneurysm An aneurysm is a bulging, weakened area of a blood vessel that causes an abnormal widening of its diameter > 1.5 times the size of the native vessel. Aneurysms occur more often in arteries than in veins and are at risk of dissection and rupture, which can be life-threatening. Extremity and Visceral Aneurysms
Gross pathology from nephrectomy in a patient with autosomal dominant polycystic kidney disease

Gross pathology from nephrectomy in a patient with autosomal dominant polycystic kidney disease (ADPKD)

Image: “Incidental renal cell carcinoma Renal cell carcinoma Renal cell carcinoma (RCC) is a tumor that arises from the lining of the renal tubular system within the renal cortex. Renal cell carcinoma is responsible for 80%-85% of all primary renal neoplasms. Most RCCs arise sporadically, but smoking, hypertension, and obesity are linked to its development. Renal Cell Carcinoma presenting in a renal transplant recipient with autosomal dominant polycystic kidney disease” by Misumi T, Ide K, Onoe T, Banshodani M, Tazawa H, Teraoka Y, Hotta R, Yamashita M, Tashiro H, Ohdan H. License: CC BY 2.0, cropped by Lecturio.

Comparison

The 2 main types of polycystic kidney disease are ADPKD and autosomal recessive polycystic kidney disease Autosomal Recessive Polycystic Kidney Disease Polycystic kidney disease (PKD) is an inherited genetic disorder leading to the development of numerous fluid-filled cysts in the kidneys. Autosomal recessive polycystic kidney disease is primarily characterized by cystic dilatations of the renal collecting ducts and intrahepatic bile duct dilatation with hepatic fibrosis. Autosomal Recessive Polycystic Kidney Disease ( ARPKD ARPKD Polycystic kidney disease (PKD) is an inherited genetic disorder leading to the development of numerous fluid-filled cysts in the kidneys. Autosomal recessive polycystic kidney disease is primarily characterized by cystic dilatations of the renal collecting ducts and intrahepatic bile duct dilatation with hepatic fibrosis. Autosomal Recessive Polycystic Kidney Disease).

Table: ADPKD vs ARPKD ARPKD Polycystic kidney disease (PKD) is an inherited genetic disorder leading to the development of numerous fluid-filled cysts in the kidneys. Autosomal recessive polycystic kidney disease is primarily characterized by cystic dilatations of the renal collecting ducts and intrahepatic bile duct dilatation with hepatic fibrosis. Autosomal Recessive Polycystic Kidney Disease
ADPKD ARPKD ARPKD Polycystic kidney disease (PKD) is an inherited genetic disorder leading to the development of numerous fluid-filled cysts in the kidneys. Autosomal recessive polycystic kidney disease is primarily characterized by cystic dilatations of the renal collecting ducts and intrahepatic bile duct dilatation with hepatic fibrosis. Autosomal Recessive Polycystic Kidney Disease
Inheritance Autosomal dominant Autosomal recessive
Genes involved PKD1, PKD2 PKHD1
Associated proteins Polycystin-1, polycystin-2 Fibrocystin
Age of presentation Adulthood Antenatal, neonatal, infant
Clinical features
  • Impaired renal function
  • Enlarged kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys
  • Cerebral aneurysm Aneurysm An aneurysm is a bulging, weakened area of a blood vessel that causes an abnormal widening of its diameter > 1.5 times the size of the native vessel. Aneurysms occur more often in arteries than in veins and are at risk of dissection and rupture, which can be life-threatening. Extremity and Visceral Aneurysms
  • Hepatic and pancreatic cysts
  • Colon Colon The large intestines constitute the last portion of the digestive system. The large intestine consists of the cecum, appendix, colon (with ascending, transverse, descending, and sigmoid segments), rectum, and anal canal. The primary function of the colon is to remove water and compact the stool prior to expulsion from the body via the rectum and anal canal. Colon, Cecum, and Appendix diverticulosis
  • Abdominal hernias
  • Impaired renal function
  • Enlarged kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys
  • Intrahepatic bile duct dilatation and hepatic fibrosis
  • Pulmonary hypoplasia Pulmonary hypoplasia Pulmonary hypoplasia is the lack of normal fetal development of the pulmonary parenchyma. The condition is characterized by a decreased number of alveoli and bronchial generations. Oligohydramnios is a notable cause, but conditions that restrict lung development or lead to fetal lung compression can also result in pulmonary hypoplasia. Pulmonary Hypoplasia
Gross and pathologic morphology
  • Large kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys, surface full of cysts, distorted renal architecture
  • Round cysts of varying size (microcysts and macrocysts)
  • Functioning nephrons between cysts
  • Large kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys, smooth surface, preserved general shape of kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys
  • Microcysts (usually < 2 mm), which are tubular (affecting the collecting ducts and tubules), radiate from the medulla to the cortex.
  • Dilation of collecting ducts
Ultrasound findings Multiple cysts (based on age):
  • < 40 years of age: ≥ 3
  • 40–59 years of age: ≥ 2 each kidney
  • ≥ 60 years of age: ≥ 4 each kidney
  • Enlarged, echogenic kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys
  • Poor corticomedullary differentiation
  • Multiple tiny cysts
ADPKD: autosomal dominant polycystic kidney disease
ARPKD ARPKD Polycystic kidney disease (PKD) is an inherited genetic disorder leading to the development of numerous fluid-filled cysts in the kidneys. Autosomal recessive polycystic kidney disease is primarily characterized by cystic dilatations of the renal collecting ducts and intrahepatic bile duct dilatation with hepatic fibrosis. Autosomal Recessive Polycystic Kidney Disease: autosomal recessive polycystic kidney disease Autosomal Recessive Polycystic Kidney Disease Polycystic kidney disease (PKD) is an inherited genetic disorder leading to the development of numerous fluid-filled cysts in the kidneys. Autosomal recessive polycystic kidney disease is primarily characterized by cystic dilatations of the renal collecting ducts and intrahepatic bile duct dilatation with hepatic fibrosis. Autosomal Recessive Polycystic Kidney Disease

Differential Diagnosis

  • Multiple benign simple cysts: Renal cysts are a common, asymptomatic, incidental finding in adults. The cysts increase in number with age. Differentiation from mild ADPKD may be difficult. Patients without ADPKD generally do not have a family history, gross hematuria, flank pain Pain Pain has accompanied humans since they first existed, first lamented as the curse of existence and later understood as an adaptive mechanism that ensures survival. Pain is the most common symptomatic complaint and the main reason why people seek medical care. Physiology of Pain, or renal insufficiency.
  • Localized renal cystic disease: a localized, benign condition confused with PKD. Unlike PKD, the condition is a localized cystic disease and neither bilateral nor progressive. Patients have no family history of ADPKD. 
  • Acquired renal cystic disease: chronic kidney disease Chronic Kidney Disease Chronic kidney disease (CKD) is kidney impairment that lasts for ≥ 3 months, implying that it is irreversible. Hypertension and diabetes are the most common causes; however, there are a multitude of other etiologies. In the early to moderate stages, CKD is usually asymptomatic and is primarily diagnosed by laboratory abnormalities. Chronic Kidney Disease is frequently associated with the development of multiple small cysts bilaterally. The cysts are often small (< 0.5 cm) and patients have no family history. The kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys have a smooth contour and are small to normal in size. Associated extrarenal manifestations are not noted.
  • Medullary sponge kidney: malformation of the collecting ducts (tubular dilatation) limited to the medullary pyramids. The condition may mimic PKD on urographic studies. Patients can present with kidney stones, hematuria, and UTIs. Unlike PKD, the renal cortex is spared, which can be seen on CT or MRI.
  • Autosomal dominant tuberous sclerosis Tuberous sclerosis Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant disorder with mainly neurocutaneous symptoms. Mutation in the TSC genes causes excessive tumor-like growths in the brain, eyes, heart, kidney, and lungs. Cutaneous manifestations include hypopigmentation (i.e., ash leaf spots, confetti lesions) or excessive growth (i.e., angiofibroma, shagreen patch). Tuberous Sclerosis complex: multiple, bilateral kidney cysts. Other findings include renal angiomyolipomas, facial angiofibromas, hypomelanotic macules, and retinal nodular hamartomas. Diagnosis is based on clinical findings and genetic testing (TSC1 or TSC2 pathogenic mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations).
  • Autosomal dominant tubulointerstitial kidney disease: a rare genetic disorder characterized by a gradual decline in kidney function from the teenage years. The onset of ESRD is variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables. Presentation includes early-onset gout Gout Gout is a heterogeneous metabolic disease associated with elevated serum uric acid levels (> 6.8 mg/dL) and abnormal deposits of monosodium urate in tissues. The condition is often familial and is initially characterized by painful, recurring, and usually monoarticular acute arthritis, or "gout flare," followed later by chronic deforming arthritis. Gout, hyperuricemia, and, in some, renal cysts. Unlike PKD, cysts are at the corticomedullary junction and the kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys are small to normal in size.

References

  1. Bennett W.M., Torres V.E. (2020). Autosomal dominant polycystic kidney disease (ADPKD): Extrarenal manifestations. UpToDate. Retrieved Feb 25, 2021, from https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-extrarenal-manifestations
  2. Chapman AB, Rahbari-Oskoui FF, Bennett WM. (2020). Autosomal dominant polycystic kidney disease (ADPKD): Renal manifestations. UpToDate. Retrieved Feb 25, 2021, from https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-renal-manifestations
  3. Chapman A.B., Rahbari-Oskoui, F.F., Bennett, W.M. (2020). Autosomal dominant polycystic kidney disease (ADPKD): Treatment. UpToDate. Retrieved Feb 25, 2021, from https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-treatment
  4. Genetic and Rare Disease Information Center. (2020). Autosomal dominant polycystic kidney disease. Retrieved February 25, 2021, from https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease 
  5. Guler, S., Cimen, S., Hurton, S., et al. (2015). Diagnosis and Treatment Modalities of Symptomatic Polycystic Kidney Disease. In Li X (Ed.), Polycystic Kidney Disease [Internet]. Brisbane (AU): Codon Publications. https://www.ncbi.nlm.nih.gov/books/NBK373387/
  6. Halvorson, C.R., Bremmer, M.S., Jacobs, S.C. (2010). Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment. Int. J. Nephrol. Renovasc. Dis. 3:69–83.
  7. Kruskal, J.B., Richie, J.P. (2021). Simple and complex renal cysts in adults. UpToDate. Retrieved Feb 25, 2021, from https://www.uptodate.com/contents/simple-and-complex-renal-cysts-in-adults
  8. Merck Manual. (2019). Autosomal Dominant Autosomal dominant Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal dominant diseases are expressed when only 1 copy of the dominant allele is inherited. Autosomal Recessive and Autosomal Dominant Inheritance Polycystic Kidney Disease (ADPKD). https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease
  9. National Institute of Diabetes and Digestive and Kidney Diseases. (2017). What is Polycystic Kidney Disease? https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd#symptoms
  10. Patil A., Sweeney W.E. Jr., Avner E.D., et al. (2015). Childhood Polycystic Kidney Disease. Polycystic Kidney Disease. https://www.ncbi.nlm.nih.gov/books/NBK373381/
  11. Torres V.E., Bennett W.M. (2021). Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis. UpToDate. Retrieved Feb 25, 2021, from https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis
  12. Zhou J, & Pollak M.R. (2018). Polycystic kidney disease and other inherited disorders of tubule growth and development. In Jameson LJ, et al. (Ed.), Harrison’s Principles of Internal Medicine (20th ed.) https://accessmedicine-mhmedical-com.aucmed.idm.oclc.org/content.aspx?bookid=2129&sectionid=192281464

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