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    Autosomal Dominant Polycystic Kidney Disease

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    adamu mohammad
    Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys that can lead to kidney failure. It is one of the most common inherited kidney diseases and a leading cause of end-stage renal disease. The disease is caused by mutations in the PKD1 or PKD2 genes and follows an autosomal dominant pattern of inheritance. Affected individuals have a 50% chance of passing the gene mutation to each child. Over time, the cysts enlarge and cause the kidneys to grow larger and lose function, which can result in high blood pressure and kidney failure requiring dialysis or transplantation.

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    Autosomal Dominant Polycystic Kidney Disease

    Uploaded by

    adamu mohammad
    58 views19 pages
    Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys that can lead to kidney failure. It is one of the most common inherited kidney diseases and a leading cause of end-stage renal disease. The disease is caused by mutations in the PKD1 or PKD2 genes and follows an autosomal dominant pattern of inheritance. Affected individuals have a 50% chance of passing the gene mutation to each child. Over time, the cysts enlarge and cause the kidneys to grow larger and lose function, which can result in high blood pressure and kidney failure requiring dialysis or transplantation.

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    AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

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    Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys that can lead to kidney failure. It is one of the most common inherited kidney diseases and a leading cause of end-stage renal disease. The disease is caused by mutations in the PKD1 or PKD2 genes and follows an autosomal dominant pattern of inheritance. Affected individuals have a 50% chance of passing the gene mutation to each child. Over time, the cysts enlarge and cause the kidneys to grow larger and lose function, which can result in high blood pressure and kidney failure requiring dialysis or transplantation.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    58 views19 pages

    Autosomal Dominant Polycystic Kidney Disease

    Uploaded by

    adamu mohammad
    Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys that can lead to kidney failure. It is one of the most common inherited kidney diseases and a leading cause of end-stage renal disease. The disease is caused by mutations in the PKD1 or PKD2 genes and follows an autosomal dominant pattern of inheritance. Affected individuals have a 50% chance of passing the gene mutation to each child. Over time, the cysts enlarge and cause the kidneys to grow larger and lose function, which can result in high blood pressure and kidney failure requiring dialysis or transplantation.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 19

    AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY

    DISEASE
    ( ADPKD)
    Outline
    • Introduction
    • History
    • Definition
    • Epidemiology
    • Aetiology
    • Pathophysiology
    • Signs and symptoms
    • Differential diagnosis
    Introduction
    • Polycystic kidney disease is an inherited
    disease that involves bilateral renal cysts
    • It is broadly divided into two forms;
    >Autosomal dominant polycystic kidney
    disease (ADPKD)
    > Autosomal recessive polycystic kidney
    disease ( ARPKD )
    • ADPKD is one of the most common inherited
    disorders in humans and the most frequent genetic
    cause of kidney failure in adults, accounting for 6 –
    8% of patients on dialysis in US
    • It is a multi-systemic and progressive disorder
    characterized by cyst formation and enlargement in
    the kidney and other organs
    • Clinical manifestations usually begin in the third to
    fourth decade of life , but cysts may be detectable in
    childhood and in utero.
    • Up to 50% of patients with ADPKD require
    renal replacement therapy by 60years of age
    • ADPKD is one of the few monogenic renal
    diseases that are generally diagnosable
    without genetic testing
    Epidemiology
    • Worldwide, ADPKD affects approximately 4 – 7 million
    individuals and accounts for 7 – 15% of patients on
    renal replacement therapy
    • In North America and Europe , ADPKD is responsible
    for 6 -10% of ESRD cases
    • Approximately one per 800 -1000 population carries a
    mutation for this condition
    • Approximately 85 – 90% of the patients with ADPKD
    have ADPKD 1 : most of the remaining patients have
    ADPKD 2
    • ADPKD is slightly more severe in males than in
    females , but the different is not statistically
    significant
    • Hospital based studies in Nigeria shows a
    prevalence of about 50% in patients with
    cystic lesions in the Nephrology clinic
    Etiology
    • ADPKD is a hereditary disorder . The pattern of inheritance is
    autosomal dominant . Because the disorder occurs equally in
    male and female , each offspring has 50% chance of inheriting
    the responsible mutation and, hence , the disease
    • ADPKD is a genetically heterogeneous condition that involves
    at least 2 genes
    • PKD1 is located on 16p13.3 and account for most ADPKD cases
    • PKD2 is located on 4q21-q22 and account for 15% of ADPKD
    cases.
    • Other genes identified in the etiology of ADPKD include
    GANAB ,ALG9, DNAJB11 and LRP5.
    Pathophysiology
    • In ADPKD , each epithelial cell within a renal tubule harbors a
    germ – line mutation, yet only a tiny fraction of the tubules will
    develop renal cysts
    • It is currently held that the cells are protected by allele inherited
    from the without ADPKD. When this allele is inactivated by a
    somatic event ( mutation or otherwise) within a solitary renal
    tubule cell, the cell divide repeatedly until cyst develops, with an
    aberrant growth program causing endless expansion
    • The severity of ADPKD is thought to be a direct consequence of
    the number of times and frequency with which this cystogenic
    process occurs within the kidney over the life of patient.
    • The hyperplastic cells cause an out- pocketing of the tubule
    wall, with the formation of a saccular cyst that fills with fluid
    derived from glomerular filtrate that enters from afferent
    tubule segment
    • Progressive expansion eventually causes most of the
    emerging cysts to separate from the parent tubule , leaving
    an isolated sac that fill with fluid by transepithelial secretion
    • This isolated cyst expands relentlessly as a result of
    continued proliferation of the mural epithelium together
    with the transepithelial secretion of the sodium chloride and
    water into the lumen.
    • The expanding fluid filled tumor masses elicit
    secondary and tertiary changes within the
    renal interstitium evinced by thickening and
    lamination of the tubule basement
    membranes , infiltration of macrophages, and
    neovascularization
    • Fibrosis within the interstitium begins early in
    the course of the disease.
    • Cellular proliferation and fluid secretion may
    be accelerated by cyclic adenosine
    monophosphate (cAMP) and growth factors,
    such as epidermal growth factor (EGF )
    • In summary, cysts function as autonomous
    structure and are responsible for progressive
    kidney enlargement in ADPKD
    Types
    • Approximately 85 – 90% of patients with
    ADPKD have an abnormality on short arm of
    chromosome 16 ( ie ADPKD type 1 )
    • ADPKD type 2 responsible for 10 – 15% of
    ADPKD cases and is found on the long arm of
    chromosome 4
    • Other genetic abnormalities : GANAB ,
    ALG9,DNAJB11 or LRP5
    ADPKD symptoms
    • Not everyone with ADPKD will have symptoms
    • Those who do may not notice anything for
    many years
    • Abdominal mass , chronic flank or back pain
    • Most people with the disease have high blood
    pressure
    • UTI and kidney stones are also common
    • Gross haematuria , abdominal swelling
    Prognosis
    • The two forms of ADPKD , 1 & 2 share similar clinical
    features , renal prognosis is strikingly different
    • ADPKD 2 is milder disease, based on the age of
    onset of ESRD . The median age of renal survival for
    individuals with ADPKD 1 is 56years,compare with
    68years in those with ADPKD 2
    • Nevertheless, even though ADPKD2 is milder than
    ADPKD 1, it has an overall impact on survival and
    short life expectancy
    • Cardiovascular pathology and infections
    account for approximately 90% of deaths in
    patients treated with haemodialysis or
    peritoneal dialysis and after renal
    transplantation
    • A rare cause of mortality in ADPKD is
    subarachnoid haemorrhage from intracranial
    aneurysms.
    Risk factors for progression
    • PKD1 genotype
    • Several episodes of gross haematuria
    • Severe and frequent kidney infections
    • Hypertension
    • Multiple pregnancies
    • Large kidney
    • Black racial background
    • Male sex

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