Autosomal recessive polycystic kidney disease : Qworld Nephrology Notes by Tanmay Mehta
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Autosomal recessive polycystic kidney disease : Qworld Nephrology Notes by Tanmay Mehta For PG Medical Entrance Exam like NEETPG , AIPGMEE , AIIMS , USMLE , DNB Facebook.com/qworld.co.in
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Polycystic kidney disease 
Polycystic kidney disease Aayusha Bhandari
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Polycystic kidney disease can be autosomal dominant or recessive. Autosomal dominant PKD is caused by mutations that result in multiple bilateral cysts in the kidneys and liver, and those with a parent with the disease have a 50% chance of developing it. Diagnosis involves family history, imaging showing cysts, and ultrasound or MRI. There is no treatment to prevent cyst growth, but blood pressure and infections should be controlled. Autosomal recessive PKD requires both parents to have the disease, and is diagnosed through ultrasound showing large cystic kidneys and liver fibrosis. Treatment focuses on intensive care, dialysis, and transplantation as survival into adulthood is now possible.Polycystic Kidney disease
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Subset of renal cystic disorders in which cysts are distributed throughtout the cortex and medulla of both kidneys.Arpkd
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Autosomal Recessive Polycystic Kidney Disease (ARPKD) is caused by mutations in the PKHD1 gene and results in cyst formation in the kidneys and congenital hepatic fibrosis. It occurs in about 1 in 20,000 live births. The condition is characterized by rapid enlargement of the kidneys in infants due to cysts in the collecting ducts. This can lead to complications like congestive heart failure. While some infants may die shortly after birth, those who survive can have improved outcomes with 5-year survival rates around 85%. Treatment focuses on management of symptoms like hypertension and electrolyte imbalances.Poly cystic kidney disease
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This document discusses polycystic kidney disease (PKD), specifically autosomal dominant polycystic kidney disease (ADPKD). It defines ADPKD as a genetic disorder caused by mutations in PKD1 and PKD2 genes, characterized by multiple bilateral renal cysts and cysts in other organs. Symptoms may include abdominal or flank pain, hematuria, hypertension, enlarged kidneys with nodular surfaces, and liver cysts. Diagnosis involves family history, clinical examination, and ultrasound evaluation of the kidneys. While there is no specific treatment, management focuses on blood pressure control, treating infections, reducing pain, and renal replacement therapies like dialysis or transplantation for end-stage renal disease.Polycystic kidney disease
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POLYCYSTIC KIDNEY DISEASE
Acquired Cystic Kidney Disease (also called ACKD)
Infantile or Autosomal Recessive PKD (also called ARPKD)
Autosomal Dominant PKD (also called PKD or ADPKD)
Signs and Symptoms
Diagnosis
Treatment
Prevention
Polycystic kidney disease
Polycystic kidney diseaseOrderCustomEssay
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This document discusses polycystic kidney disease (PKD), a genetic disorder where cysts form on the kidneys. There are two types - autosomal dominant PKD, which usually develops later in life and is more common, and autosomal recessive PKD, which develops in childhood. Symptoms include abdominal pain and tenderness, blood in the urine, and high blood pressure. The condition is diagnosed using scans to detect cysts on the kidneys. Treatment focuses on managing symptoms through medication and potentially surgery if cysts become problematic.Polycystic Kidney Disease (PKD)
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Polycystic disease of the kidney (PKD) is a disorder in which major portion of the renal parenchyma is converted into cysts of varying size .
Fluid-filled cysts distributed over the kidney results in massive enlargement of the kidneys.Polycystic Kidney Disease
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This document provides an overview of polycystic kidney disease (PKD), including a history, introduction to the different types (autosomal dominant and recessive), pathophysiology, diagnostic tests and treatments. It discusses the first known case in the 16th century Polish king and subsequent studies defining it as a clinical entity. The two main types are described in more detail, focusing on genetics, characteristics and management. A case study is presented of a 42-year old female diagnosed with autosomal dominant PKD who underwent genetic testing identifying a heterozygous nonsense mutation.Autosomal recessive polycystic kidney disease
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Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by progressive kidney enlargement and varying degrees of liver abnormalities. It is caused by mutations in the PKHD1 gene and results in abnormalities in the kidney and liver collecting ducts. Clinically, ARPKD presents in early childhood with flank masses, hypertension, urinary concentration defects, and can lead to renal insufficiency. On pathology, the kidneys appear sponge-like with multiple small cysts radiating from the medulla to cortex. There is no known family history of the disease as it is transmitted through an autosomal recessive trait.Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Polycystic Kidney Diseasedrsamianik
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1. Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by multiple bilateral renal cysts and cysts in other organs caused by mutations in PKD1 and PKD2 genes.
2. The renal cysts enlarge over time, ultimately leading to renal failure in half of patients by age 60.
3. Treatment focuses on controlling blood pressure, treating infections, reducing pain, and delaying renal failure through medications such as ACE inhibitors or ARBs.Adult polycystic kidney disease
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A 78-year-old patient presented with a history of hypertension and renal failure. Ultrasound showed enlarged kidneys with multiple cysts in both kidneys. The patient was diagnosed with autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by growth of numerous cysts in both kidneys that can lead to kidney failure. ADPKD is caused by mutations in genes PKD1 or PKD2 and symptoms include back pain, headaches, and kidney cysts that worsen over time, eventually causing renal failure in around 50% of patients by age 60 if left untreated.Polycystic kidney disease
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definition
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4th Year MBBSCystic diseases of the kidney in children
Cystic diseases of the kidney in childrenMohamed Shaaban
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Cystic kidney diseases in children can be genetic or non-genetic in origin. Genetic causes include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), juvenile nephronophthisis, and glomerulocystic kidney disease. Non-genetic causes include simple cysts, multicystic dysplastic kidney, acquired cysts, and caliceal cysts. Ultrasound is the primary imaging modality used for diagnosis. ARPKD is the most severe genetic cause, occurring in 1 in 50,000, and is characterized by cystic dilatation of the collecting tubules affecting both kidneysPolycystic kidney disease (PCKD)
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This document discusses polycystic kidney disease (PKD). It describes PKD as a common hereditary disease characterized by the development of multiple renal cysts. There are two forms: autosomal recessive PKD which is fatal in infancy, and autosomal dominant PKD which is more common and can lead to end stage renal disease in around 50% of cases by age 60. The document provides details on the clinical features, investigations, and management of autosomal dominant PKD.Case presentation polycystic kideny
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This document describes the case of a 3-year-old boy who presented with abnormal movements and fever. He was found to have chronic renal failure, hypocalcemia, hypomagnesaemia, and hypertensive encephalopathy. Imaging showed enlarged kidneys consistent with autosomal dominant polycystic kidney disease (ADPKD). He was treated for his hypertension and renal failure. Hypertensive encephalopathy is characterized by neurological symptoms due to a rapid rise in blood pressure and failure of the brain's autoregulation. It is commonly seen in patients with renal disease and is managed by slowly lowering the blood pressure over 24-48 hours.Adult polycystic kidney disease 
Adult polycystic kidney disease konderu prathyusha
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Adult polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys and other organs. It is caused by mutations in one of two genes, PKD1 or PKD2, and affects around 1 in 1000 people. Symptoms include back or abdominal pain, hematuria, and hypertension. Extrarenal manifestations include cysts in the liver and pancreas as well as cerebral and coronary artery aneurysms. Diagnosis is made based on imaging and family history. While there is no cure, treatment focuses on slowing disease progression, managing complications like hypertension, and renal replacement therapy for end-stage renal disease.polycystic kidney disease
polycystic kidney diseaseyalla naveen kumar
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The document discusses polycystic kidney disease (PKD), which is an inherited disorder characterized by the growth of numerous cysts in the kidneys. There are three main types of PKD - autosomal dominant PKD, autosomal recessive PKD, and acquired cystic kidney disease. Autosomal dominant PKD is the most common, accounting for 90% of cases and caused by mutations in the PKD1 or PKD2 genes. Autosomal recessive PKD is rare and caused by mutations in the PKHD1 gene. Symptoms can range from high blood pressure to kidney failure. Treatments aim to control complications through medication and dialysis, with kidney transplantation as an option.Multi cystic dysplastic kidney (renal dysplasia)
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Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by multiple bilateral renal cysts that can lead to kidney failure, with mutations in two genes causing cyst formation through disordered polycystin function; it commonly causes hypertension, pain, infection, and kidney failure and can involve the liver and other organs; management focuses on slowing progression through blood pressure control, pain management, and potentially targeting the renin-angiotensin system or mTOR pathway.Autosomal dominant polycystic kidney disease (adpkd)
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- Autosomal dominant polycystic kidney disease (ADPKD) is characterized by multiple bilateral renal cysts that lead to kidney enlargement and failure. It has a prevalence of 1 in 400 to 1000 live births.
- The disease is caused by mutations in the PKD1 and PKD2 genes which code for polycystin proteins 1 and 2. These proteins are involved in cellular signaling pathways regulating cell proliferation and adhesion. Loss of function of these proteins results in focal cyst formation in the kidneys.
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This document discusses cystic diseases of the kidney. It describes different types of kidney cysts including polycystic kidney disease. Autosomal dominant polycystic kidney disease is the most common type and is caused by mutations in the PKD1 or PKD2 genes. It is characterized by bilateral enlargement of the kidneys due to multiple fluid-filled cysts. Symptoms may include pain, hematuria, and signs of chronic kidney disease. The document also discusses other cystic conditions like autosomal recessive polycystic kidney disease, medullary cystic kidney disease, and multicyctic renal dysplasia.Multicystic Dysplastic Kidney
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1) Prenatal ultrasound identified a cystic enlargement of the left kidney in the fetus.
2) After a preterm delivery, examination of the newborn found generalized edema, dysmorphic features, and a grossly edematous left MCDK.
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Urinary tract infections are caused by bacteria like E. coli entering the urinary tract. Women are more prone to UTIs, which can affect the urethra, bladder, ureters or kidneys. Common symptoms include urgency, frequent urination and abdominal or back pain. Diagnosis involves testing a urine sample for bacteria and white blood cells. Left untreated, UTIs during pregnancy can travel to the kidneys due to hormonal changes. Proper treatment uses antibiotics to resolve the infection.Pedi gu review cystic disease i
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Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by progressive kidney enlargement and varying degrees of liver abnormalities. It is caused by mutations in the PKHD1 gene and results in abnormalities in the kidney and liver collecting ducts. Clinically, ARPKD presents in early childhood with flank masses, hypertension, urinary concentration defects, and can lead to renal insufficiency. On pathology, the kidneys appear sponge-like with multiple small cysts radiating from the medulla to cortex. There is no known family history of the disease as it is transmitted through an autosomal recessive trait.Autosomal Dominant Polycystic Kidney Disease
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1. Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by multiple bilateral renal cysts and cysts in other organs caused by mutations in PKD1 and PKD2 genes.
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A 78-year-old patient presented with a history of hypertension and renal failure. Ultrasound showed enlarged kidneys with multiple cysts in both kidneys. The patient was diagnosed with autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by growth of numerous cysts in both kidneys that can lead to kidney failure. ADPKD is caused by mutations in genes PKD1 or PKD2 and symptoms include back pain, headaches, and kidney cysts that worsen over time, eventually causing renal failure in around 50% of patients by age 60 if left untreated.Polycystic kidney disease
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There are many different types of kidney cysts that can be classified in various ways. An ideal classification system would take into account morphological features, pathogenesis, and therapeutic potential. Autosomal dominant polycystic kidney disease (ADPKD) is the most common cystic kidney disease and is characterized by multiple bilateral cysts of varying sizes in the kidneys and liver. It has a prevalence of 1 in 400 to 1,000 people and is caused by mutations in the PKD1 or PKD2 genes.Autosomal Dominant Polycystic Kidney Disease
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- The disease is caused by mutations in the PKD1 and PKD2 genes which code for polycystin proteins 1 and 2. These proteins are involved in cellular signaling pathways regulating cell proliferation and adhesion. Loss of function of these proteins results in focal cyst formation in the kidneys.
- Current treatments aim to slow cyst growth and decline in kidney function. Vasopressin receptor antagonists like tolvaptan have shown some efficacy in reducing total kidney volume increase inCystic diseases of kidney
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This document discusses cystic diseases of the kidney. It describes different types of kidney cysts including polycystic kidney disease. Autosomal dominant polycystic kidney disease is the most common type and is caused by mutations in the PKD1 or PKD2 genes. It is characterized by bilateral enlargement of the kidneys due to multiple fluid-filled cysts. Symptoms may include pain, hematuria, and signs of chronic kidney disease. The document also discusses other cystic conditions like autosomal recessive polycystic kidney disease, medullary cystic kidney disease, and multicyctic renal dysplasia.Multicystic Dysplastic Kidney
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This document presents a case report of a newborn with multicystic dysplastic kidney (MCDK). The key points are:
1) Prenatal ultrasound identified a cystic enlargement of the left kidney in the fetus.
2) After a preterm delivery, examination of the newborn found generalized edema, dysmorphic features, and a grossly edematous left MCDK.
3) Workup revealed renal failure. Imaging showed a small right kidney. The newborn was treated with peritoneal dialysis.Polycystic kidney disease
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The document discusses various pediatric renal cystic diseases including their definitions, categories, genetics, presentations, associations, and management. Multicystic dysplastic kidney is defined as involving the entire kidney with primitive ducts and cysts present from early development. It is the renal cystic condition that arises prior to nephron formation.Cystic renal diseases
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This document discusses various renal cystic diseases and conditions. It covers cortical and medullary cysts, polycystic kidney disease, multicystic renal dysplasia and extra-parenchymal cysts. Autosomal dominant polycystic kidney disease is described as the most common hereditary cystic renal disease affecting 1 in 1000 people typically in the third decade of life. Imaging findings for simple cysts, polycystic kidney disease, multicystic renal dysplasia and extrarenal cysts on ultrasound, intravenous urography, CT and MRI are summarized.Cystic diseases of kidney
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Autosomal recessive polycystic kidney disease : Qworld Nephrology Notes by Tanmay Mehta
- 1. Qworld Nephrology Notes Tanmay Mehta AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE ï‚· Chromosome 6 p21 ï‚· single genetic disease with variable phenotypic presentation ï‚· neonatal, infantile, or juvenile ï‚· relative degree of involvement of the kidneys and liver ï‚· At birth the kidneys are enlarged with a smooth external surface. ï‚· The distal tubules and collecting ducts are dilated into elongated cysts that are arranged in a radial fashion. ï‚· As the patient ages, the cysts may become more spherical and the disease can be confused with ADPKD. ï‚· Interstitial fibrosis is also seen as renal function deteriorates Liver involvement includes ï‚· proliferation and dilation of intrahepatic bile ducts as well as ï‚· periportal fibrosis. ï‚· The majority of cases are diagnosed in the first yearQ of life, presenting as Qbilateral Qabdominal masses. ï‚· Death in the neonatal period is most commonly due to pulmonary hypoplasiaQ. ï‚· Hypertension Qand impaired urinary concentrating abilityQ are common ï‚· course to ESRD is variable, though many children maintain adequate kidney function for years ï‚· Older children present with complications secondary to congenital hepatic fibrosis ï‚· Hepatosplenomegaly, ï‚· portal hypertension,Q and ï‚· esophageal varices ï‚· QUltrasound is the most common technique used to diagnose ARPKD, prenatally and in childhood: enlarged kidneys with increased echogenicity ï‚· IVP : SUNBURST PATTERNQ ï‚· Aggressive treatment of hypertension and urinary tract infection are the major goals ï‚· Dialysis and transplant are appropriate when kidney failure occurs. ï‚· Hepatic fibrosis may lead to life-threatening variceal hemorrhage, requiring sclerotherapy or portosystemic shunts.