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Polycystic Kidney Disease

Updated : August 30, 2023





Background

Autosomal dominant polycystic kidney disorder (ADPKD) is a condition. Cyst development & kidney swelling are two features of this multisystem, progressive disorder in addition to other organ involvement (e.g., pancreas, liver, spleen).

In around 6% – 8% of people receiving dialysis united states, it is the most common hereditary cause of kidney failure in the adult population. 50 percent of them require renal replacement treatment by the age of 60. Cysts may be seen in infancy or during pregnancy, but clinical signs don’t usually show up until the third and fourth decade of life.

Epidemiology

According to clinical record statistics, documented cases occur between 1 per 543 and 1 per 4000 people. Around the world, 4–7 million people are affected, making up 7–15% of those receiving kidney replacement treatment.

Due to a higher incidence of various ESRD causes, African Americans have a lower percentage of end-stage renal disease (ESRD) than do Whites. Age-related symptoms typically get worse. Kidney failure caused by ADPKD in children is extremely uncommon, and men tend to have slightly more severe diseases.

Anatomy

Pathophysiology

TRP (Transient receptor potential) networks include PKD1 protein (polycystin-1) & PKD2 protein (polycystin-2). The endoplasmic reticulum, spindles during cell division, the main cilium, and the plasma membrane all contain PKD2. The rate at which the cystic illness develops depends on PKD1 inactivity. PC1 & PC2 interact with one another and support one another’s development. Additionally, PC1 & PC2 communicate with other ca protein channels.

Elevated levels of cAMP (cyclic adenosine monophosphate), not just in the kidney as well as in the liver & vascular smooth muscle, are a frequent observation in animal studies of PKD. The cAMP has an impact on the proliferation of various types of cells. While limiting proliferation in cells obtained from the regular human renal cortex, cAMP & PKA signaling promotes a number of pro-proliferative mechanisms in polycystic kidney cells.

Biliary ductules & peribiliary glands overproliferate and enlarge, which results in hepatic cysts. Hypertension is brought on by diminished endothelial vasodilation & constitutive nitric oxide synth activation in subcutaneous resistant vasculature from ADPKD patients with normal GFR (glomerular filtration rate).

Etiology

Due to the fact that ADPKD is an autosomal dominant condition, both men and women can get it, and each child has a 50 percent chance of inheriting it. Two genes at least are involved with ADPKD. Most occurrences of ADPKD are caused by PKD1, which is situated on 16p13.3. 15% of instances of ADPKD are PKD2 patients.

Polycystin 1, a protein with 4304 amino acids, is encoded by PKD1. Involved in intracellular ca transport & cells involved in the regulation, polycystin 1 & polycystin 2 interact. PKD2 codes for polycystin 2, which resembles polycystin 1 structurally. It belongs to the group of calcium channels that are activated by voltage.

The epithelial cells of the renal tubules and other parts of the renal cell epithelium are the residence of polycystins 1 & 2. Both are present in the main cilium of kidney epithelial cells and form heteromeric complexes there. A mechanical receptor, the primary cilium, is thought to be able to detect variations in tubule fluid flow and convert them into intracellular Ca signaling. Compared to ADPKD2, ADPKD1 is more serious.

Genetics

Prognostic Factors

Clinical History

Clinical History

Pain is the most prevalent initial complaint in people with ADPKD (autosomal dominant polycystic kidney disease), and it is usually always present in the abdomen, the flanks, or the back.

Any of the following may be the source of the pain:

  • Enlarged cyst size in a single or more.
  • Bleeding, which could be contained inside the cyst or cause a perinephric hematoma or severe hematuria with the passage of clots.
  • Infection of the urinary tract (e.g., infected cysts, acute pyelonephritis, perinephric abscess).
  • Both renal colic and nephrolithiasis
  • An accidental hypernephroma occurs infrequently.

Additionally, patients with ADPKD may experience stomach pain from clearly or likely linked diseases. A big polycystic liver may cause dull pain and an uneasy feeling of weight. Rarely, particularly after a kidney transplant, hepatic cysts can become infectious. Diverticulitis, which has been found to occur in 80% of ADPKD patients maintained on dialysis, probably due to changed connective tissue, can also cause abdominal pain. It hasn’t been proven that this rate is higher than that of other dialysis users, though.

Thoracic aortic aneurysms may be more likely to occur in patients with ADPKD. These people do not have an elevated risk of abdominal aortic aneurysms. Abdominal discomfort in patients with ADPKD may be difficult to diagnose because pain can also arise for causes that are wholly unrelated to the underlying illness. Patients with early-stage ADPKD may also experience additional physical symptoms such as weariness, dyspnea, weakness, & malaise in addition to pain.

  • Hematuria

Hematuria is frequently the first symptom to appear and is typically self-limited, lasting one week or less. A traumatic lesion to the polycystic kidneys is unusually likely to result in bleeding, which affects about 60% of patients. Mild trauma can result in bleeding into the retroperitoneal space or intrarenal hemorrhage, both of which are accompanied by excruciating pain that frequently needs to be relieved with opioids.

Physical Examination

Physical examination

One of the most prevalent early signs of ADPKD is hypertension. 50 – 75 percent of patients have been found to have hypertension, even when their renal function is normal. Contrary to chronic glomerulonephritis or tubulointerstitial nephropathies, the clinical history of hypertension in ADPKD is substantially different from those conditions.

When it comes to ADPKD, hypertension is typically worse early on and gets better as the kidney insufficiency gets worse. In ADPKD, an increase in diastolic blood pressure is the norm. Patients with advanced ADPKD may experience palpable bilateral flank masses. In patients with severe polycystic liver problems, nodular hepatomegaly develops. When they do occur, renal failure symptoms such as uremic fetus, pallor, dry skin, and edema are uncommon.

Age group

Associated comorbidity

Associated activity

Acuity of presentation

Differential Diagnoses

Differential diagnosis:

Diabetes syndrome & renal cysts

Bardet-Biedl syndrome

Orofaciodigital syndrome type I

Autosomal dominant polycystic hepatic disease

Medullary cystic autosomal dominant disease

Von Hippel-Lindau syndrome

Tuberous sclerosis complex

Polycystic kidney disease is inherited in an autosomal recessive manner.

Bilateral parapelvic cysts

Medullary sponge kidney

Acquired kidney cystic disorder.

Localized kidney cystic disorder

Multiple benign simple cysts

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

Flank Pain:

The possibility of a stone, infection, or tumor being the cause of flank pain should be ruled out. Opioid analgesics should only be used to treat severe pain. Reassurance, a change in lifestyle, & avoiding irritating activities all might be beneficial. Because they are well tolerated, tricyclic antidepressants are beneficial in treating various chronic pain disorders. If it is thought that the pain is being caused by a big cyst distorting the kidney, a cyst aspiration can be performed with ultrasound and CT supervision. Laparoscopic and surgical tumor fenestration may help if several cysts are causing pain.

Urinary tract infection & cysts:

To avoid reverse seeding of the renal parenchyma, symptomatic cystitis, and asymptomatic bacteriuria should be treated right away. Fluoroquinolones & trimethoprim-sulfamethoxazole are preferred agents. Infectious cysts should be surgically or percutaneously drained if fever still exists after one to two weeks of proper antimicrobial treatment. Nephrectomy must be considered if the polycystic kidneys are in their last stages.

Cyst hemorrhage:

Episodes of cyst bleeding are self-limited, & patients do well under conservative therapy, which includes analgesics, bed rest, & excess water ingestion to avoid blocking clots. In rare cases, bleeding becomes more serious and causes hemodynamic instability, necessitating hospitalization, and blood transfusions.

Nephrolithiasis:

The preferred treatment for the associated stone-forming problems, such as uric acid stones, distal acidification abnormalities, and hypo-citraconic calcium oxalate stones, is potassium citrate.

Hypertension:

The preferred antihypertensives for ADPKD are angiotensin receptor blockers or ACE antagonists, which enhance renal blood flow.

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

 

 

Medication

 

 

Media Gallary

References

https://www.ncbi.nlm.nih.gov/books/NBK532934/

https://emedicine.medscape.com/article/244907-clinical#b2

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Polycystic Kidney Disease

Updated : August 30, 2023




Autosomal dominant polycystic kidney disorder (ADPKD) is a condition. Cyst development & kidney swelling are two features of this multisystem, progressive disorder in addition to other organ involvement (e.g., pancreas, liver, spleen).

In around 6% – 8% of people receiving dialysis united states, it is the most common hereditary cause of kidney failure in the adult population. 50 percent of them require renal replacement treatment by the age of 60. Cysts may be seen in infancy or during pregnancy, but clinical signs don’t usually show up until the third and fourth decade of life.

According to clinical record statistics, documented cases occur between 1 per 543 and 1 per 4000 people. Around the world, 4–7 million people are affected, making up 7–15% of those receiving kidney replacement treatment.

Due to a higher incidence of various ESRD causes, African Americans have a lower percentage of end-stage renal disease (ESRD) than do Whites. Age-related symptoms typically get worse. Kidney failure caused by ADPKD in children is extremely uncommon, and men tend to have slightly more severe diseases.

TRP (Transient receptor potential) networks include PKD1 protein (polycystin-1) & PKD2 protein (polycystin-2). The endoplasmic reticulum, spindles during cell division, the main cilium, and the plasma membrane all contain PKD2. The rate at which the cystic illness develops depends on PKD1 inactivity. PC1 & PC2 interact with one another and support one another’s development. Additionally, PC1 & PC2 communicate with other ca protein channels.

Elevated levels of cAMP (cyclic adenosine monophosphate), not just in the kidney as well as in the liver & vascular smooth muscle, are a frequent observation in animal studies of PKD. The cAMP has an impact on the proliferation of various types of cells. While limiting proliferation in cells obtained from the regular human renal cortex, cAMP & PKA signaling promotes a number of pro-proliferative mechanisms in polycystic kidney cells.

Biliary ductules & peribiliary glands overproliferate and enlarge, which results in hepatic cysts. Hypertension is brought on by diminished endothelial vasodilation & constitutive nitric oxide synth activation in subcutaneous resistant vasculature from ADPKD patients with normal GFR (glomerular filtration rate).

Due to the fact that ADPKD is an autosomal dominant condition, both men and women can get it, and each child has a 50 percent chance of inheriting it. Two genes at least are involved with ADPKD. Most occurrences of ADPKD are caused by PKD1, which is situated on 16p13.3. 15% of instances of ADPKD are PKD2 patients.

Polycystin 1, a protein with 4304 amino acids, is encoded by PKD1. Involved in intracellular ca transport & cells involved in the regulation, polycystin 1 & polycystin 2 interact. PKD2 codes for polycystin 2, which resembles polycystin 1 structurally. It belongs to the group of calcium channels that are activated by voltage.

The epithelial cells of the renal tubules and other parts of the renal cell epithelium are the residence of polycystins 1 & 2. Both are present in the main cilium of kidney epithelial cells and form heteromeric complexes there. A mechanical receptor, the primary cilium, is thought to be able to detect variations in tubule fluid flow and convert them into intracellular Ca signaling. Compared to ADPKD2, ADPKD1 is more serious.

Clinical History

Pain is the most prevalent initial complaint in people with ADPKD (autosomal dominant polycystic kidney disease), and it is usually always present in the abdomen, the flanks, or the back.

Any of the following may be the source of the pain:

  • Enlarged cyst size in a single or more.
  • Bleeding, which could be contained inside the cyst or cause a perinephric hematoma or severe hematuria with the passage of clots.
  • Infection of the urinary tract (e.g., infected cysts, acute pyelonephritis, perinephric abscess).
  • Both renal colic and nephrolithiasis
  • An accidental hypernephroma occurs infrequently.

Additionally, patients with ADPKD may experience stomach pain from clearly or likely linked diseases. A big polycystic liver may cause dull pain and an uneasy feeling of weight. Rarely, particularly after a kidney transplant, hepatic cysts can become infectious. Diverticulitis, which has been found to occur in 80% of ADPKD patients maintained on dialysis, probably due to changed connective tissue, can also cause abdominal pain. It hasn’t been proven that this rate is higher than that of other dialysis users, though.

Thoracic aortic aneurysms may be more likely to occur in patients with ADPKD. These people do not have an elevated risk of abdominal aortic aneurysms. Abdominal discomfort in patients with ADPKD may be difficult to diagnose because pain can also arise for causes that are wholly unrelated to the underlying illness. Patients with early-stage ADPKD may also experience additional physical symptoms such as weariness, dyspnea, weakness, & malaise in addition to pain.

  • Hematuria

Hematuria is frequently the first symptom to appear and is typically self-limited, lasting one week or less. A traumatic lesion to the polycystic kidneys is unusually likely to result in bleeding, which affects about 60% of patients. Mild trauma can result in bleeding into the retroperitoneal space or intrarenal hemorrhage, both of which are accompanied by excruciating pain that frequently needs to be relieved with opioids.

Physical examination

One of the most prevalent early signs of ADPKD is hypertension. 50 – 75 percent of patients have been found to have hypertension, even when their renal function is normal. Contrary to chronic glomerulonephritis or tubulointerstitial nephropathies, the clinical history of hypertension in ADPKD is substantially different from those conditions.

When it comes to ADPKD, hypertension is typically worse early on and gets better as the kidney insufficiency gets worse. In ADPKD, an increase in diastolic blood pressure is the norm. Patients with advanced ADPKD may experience palpable bilateral flank masses. In patients with severe polycystic liver problems, nodular hepatomegaly develops. When they do occur, renal failure symptoms such as uremic fetus, pallor, dry skin, and edema are uncommon.

Differential diagnosis:

Diabetes syndrome & renal cysts

Bardet-Biedl syndrome

Orofaciodigital syndrome type I

Autosomal dominant polycystic hepatic disease

Medullary cystic autosomal dominant disease

Von Hippel-Lindau syndrome

Tuberous sclerosis complex

Polycystic kidney disease is inherited in an autosomal recessive manner.

Bilateral parapelvic cysts

Medullary sponge kidney

Acquired kidney cystic disorder.

Localized kidney cystic disorder

Multiple benign simple cysts

Flank Pain:

The possibility of a stone, infection, or tumor being the cause of flank pain should be ruled out. Opioid analgesics should only be used to treat severe pain. Reassurance, a change in lifestyle, & avoiding irritating activities all might be beneficial. Because they are well tolerated, tricyclic antidepressants are beneficial in treating various chronic pain disorders. If it is thought that the pain is being caused by a big cyst distorting the kidney, a cyst aspiration can be performed with ultrasound and CT supervision. Laparoscopic and surgical tumor fenestration may help if several cysts are causing pain.

Urinary tract infection & cysts:

To avoid reverse seeding of the renal parenchyma, symptomatic cystitis, and asymptomatic bacteriuria should be treated right away. Fluoroquinolones & trimethoprim-sulfamethoxazole are preferred agents. Infectious cysts should be surgically or percutaneously drained if fever still exists after one to two weeks of proper antimicrobial treatment. Nephrectomy must be considered if the polycystic kidneys are in their last stages.

Cyst hemorrhage:

Episodes of cyst bleeding are self-limited, & patients do well under conservative therapy, which includes analgesics, bed rest, & excess water ingestion to avoid blocking clots. In rare cases, bleeding becomes more serious and causes hemodynamic instability, necessitating hospitalization, and blood transfusions.

Nephrolithiasis:

The preferred treatment for the associated stone-forming problems, such as uric acid stones, distal acidification abnormalities, and hypo-citraconic calcium oxalate stones, is potassium citrate.

Hypertension:

The preferred antihypertensives for ADPKD are angiotensin receptor blockers or ACE antagonists, which enhance renal blood flow.

 

 

 

 

 

 

https://www.ncbi.nlm.nih.gov/books/NBK532934/

https://emedicine.medscape.com/article/244907-clinical#b2

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