Psychology Wiki

Genetic counseling: Polycystic Kidney Disease

34,203pages on
this wiki
Add New Page
Talk0 Share

Assessment | Biopsychology | Comparative | Cognitive | Developmental | Language | Individual differences | Personality | Philosophy | Social |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·

Polycystic Kidney Disease


  • Greet the family/parent
  • What do you understand about why you are here in genetics today?
  • What questions or concerns do you want to have addressed today?

Elicit Medical HistoryEdit

(interim history form)

  • update medical history since last seen
  • determine if there have been any problems since released from the hospital
  • assess developmental history

Update Family HistoryEdit

  • Update pedigree
  • determine if there are any other family members with kidney problems, heart problems, liver problems or that died in early infancy

What is Polycystic Kidney Disease (PKD)?Edit

  • Two main types
    • Autosomal Dominant PKD (adult PKD)
    • Autosomal Recessive PKD (infantile PKD)


  • Etiology and Natural History
    • gene PKD1 mutated in about 85% of cases
    • gene PKD2 mutated in about 15% of cases

symptoms usually develop beginning in early adulthood although can be found in the infant period or not begin until later in adulthood

    • large amount of variability both within and between families
  • Prevelance and Inheritance
    • most common single gene disorder that is potentially lethal
    • prevalence at birth: 1/400 - 1/1000
    • 10% of cases due to new mutation
    • occurs in all races
    • inherited in autosomal dominant fashion
      • if one parent is affected there is a 50% chance of having an affected child
  • Symptoms
    • multiple bilateral renal cysts (100% of cases)
      • leads to end stage renal insufficiency by 60 years old in 50% of cases
    • cysts in other organs specifically the liver (20% by 3rd decade; 75% by 6th decade)
    • intracranial aneurysms (10% of cases)
      • more common in patients with family history of intracranial aneurysms (22%) than those without this history (6%)
    • mitral valve prolapse and other heart defects
  • Diagnosis
    • patients with known 50% risk
      • at least 2 cysts either unilateral or bilateral by 30years of age
      • large kidneys without cysts in infants and children
    • patients with no known risk
      • bilateral renal enlargements and cysts
      • in absence of indication for different renal cystic disease
      • suggestive of ADPKD, but not definite diagnosis
    • Differential from:
      • ARPKD - unaffected parents
      • Glomerulocystic kidney disease - minimal tubular involvement
  • Molecular Testing
    • Linkage analysis - need a large number of family members to establish which gene is responsible
    • Prenatal Testing - only available after a mutation has been identified in an affected family member
  • Management
    • no treatment for disease itself
    • treat symptoms to prevent premature death and alleviate pain


  • Etiology and Natural History
    • mutation in PKHD1 locus (6p21) present in all studied patients with ARPKD
    • enlarged echogenic kidneys found in perinatal period
    • large amount of variability both within and between families
    • 30% of patients with ARPKD die in neonatal period
  • Prevelance and Inheritance
    • prevalence: 1/20,000 - 1/40,000
    • prevelance may be underestimated due to death in neonatal period
    • carrier frequency: 1/70
    • inherited in autosomal recessive fashion
      • if both parents are carriers there is a 25% chance of having a child who is affected , 50% chance of having a child who is a carrier, and a 25% chance of having
  • Symptoms
    • enlarged, echogenic kidneys with poor differentiation (100% of cases)
      • renal function impaired in 70-80% of cases
    • hypertension
      • usually occurs within first week of life
    • Liver disease (45% of cases at presentation)
    • pulmonary hypoplasia resulting from oligohydramnios
    • other abnormalities: low set ears, micrognathia, flattended nose, growth deficiency
  • Diagnosis
    • enlarged echogenic kidneys with poor differentiation
    • one or more of the following:
      • absence of renal cysts in parents
      • signs of hepatic fibrosis
      • pathoanatomical proof of ARPKD in affected sibling
      • parental consanguinity suggesting AR inheritance
    • Differential from:
      • ADPKD - more likely to have bilateral macrocysts
      • Glomerulocystic kidney disease - minimal tubular involvement
  • Molecular Testing
    • Linkage analysis - based on accurate diagnosis of ARPKD in affected individual and accurate understanding of relationships in family
    • Prenatal Testing - only available after a linkage has been identified in an affected family member
  • Management
    • no treatment for disease itself
    • treat symptoms to prevent premature death and alleviate pain
      • stabilize respiratory function
    • feeding difficulty and growth failure in chidren

Psychosocial IssuesEdit

  • uncertainty of diagnosis and prognosis may lead to anxiety
  • possibity that parent could find out they have the diease (for ADPKD)
  • guilt over passing trait to child
  • Concern for risks to future pregnancies
  • Are you interested in pursuing linkage analysis?
  • How are you dealing with your son's health problems?
  • Are you anxious about the possibility of upcoming surgeries?
  • Reassure that this could not have been prevented

Recommended Follow-up for PKDEdit

  • renal ultrasounds to monitor cysts and function
  • control of hypertension
  • CT scan to detect aneurysm (ADPKD)
  • monitor liver function


  • PKD foundation (


  • Practical Genetic Counseling
  • OMIM
  • GeneClinics
  • GeneTests
  • Human Congenital Malformations


The information in this outline was last updated in 2002.

This material has been imported fom the wikibook "Genetic counseling"[] under the GNU Free Documentation License.

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

Ad blocker interference detected!

Wikia is a free-to-use site that makes money from advertising. We have a modified experience for viewers using ad blockers

Wikia is not accessible if you’ve made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected.

Also on Fandom

Random Wiki