Pierson syndrome

Is genetic testing available for Pierson syndrome?

Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.

Last updated on 05-01-20

How is Pierson syndrome inherited?

Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier

Last updated on 05-01-20

Can in vitro fertilization be used to have a boy without Pierson syndrome?

When in vitro fertilization (IVF) is used to prevent having a pregnancy affected by a specific genetic disorder, it is one step of a larger process called preimplantation genetic diagnosis (PGD). PGD is done after IVF to diagnose a genetic condition in an embryo before it is introduced into the uterus. When having PGD, only embryos known to be unaffected are introduced into the uterus for a possible pregnancy. PGD does not involve the modification of genetic material (gene therapy) to remove a mutation from an affected embryo.

PGD typically requires that the specific, genetic mutations responsible for a disorder in a family have been identified. Mutations may be identified in an affected family member, or in parents who are carriers. Therefore, advanced planning and testing is needed.

While we are not aware of specific laboratories that offer PGD for Pierson syndrome, some laboratories that perform PGD are able to do "custom" testing for most types of mutations.

Gender selection, or sex selection, may be used during PGD with IVF for medical reasons to prevent genetic disorders known to affect only males, or known to be more severe in males (X-linked disorders). Pierson syndrome is inherited in an autosomal recessive manner, affecting both sexes equally. Sometimes gender selection is "elective" when a specific gender is desired without obvious medical reasons.

As an alternative to IVF and PGD, it may be possible to find out in early pregnancy whether a fetus is affected. If the mutations in a family are known, prenatal genetic testing may be possible during pregnancy. Genetic testing may be performed on a sample obtained by chorionic villus sampling (at about 10 to 12 weeks gestation), or by amniocentesis (usually performed at about 15 to 18 weeks gestation). If the condition is confirmed in the fetus after either method, planning for an affected child and/or pregnancy management options may be discussed with a health care provider.

Ultrasound may also be used as a screening test to detect signs or symptoms of the disorder in an affected fetus. However, if no abnormalities are detected on ultrasound, the possibility that the fetus is or will be affected cannot be ruled out.

People interested in genetic testing, prenatal diagnosis, and/or PGD should speak with a genetic counselor or other genetics professional regarding their testing options. A genetics professional can help by:

  • thoroughly evaluating the family history
  • addressing questions and concerns
  • assessing recurrence risks
  • facilitating genetic testing if desired
  • discussing reproductive options

Last updated on 05-01-20

What is the long-term outlook for people with Pierson syndrome?

Pierson syndrome carries a serious prognosis because of the eventual failure of the kidneys. Most affected infants progress towards renal failure within the first days or months of life. A kidney transplant may restore kidney function.

Glaucoma, cataracts and retinal detachments require their usual treatment. Lifelong monitoring is required, but affected children may not live beyond the first decade of life.

Last updated on 05-01-20

Patient Registry

RDCRN - Nephrotic Syndrome Rare Disease Clinical Research Network (NEPTUNE)

The Nephrotic Syndrome Rare Disease Clinical Research Network (NEPTUNE) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with focal and segmental glomerulosclerosis, minimal change disease, membranous nephropathy, and nephrotic syndrome, other or unspecified caused, through research. The Nephrotic Syndrome Rare Disease Clinical Research Network (NEPTUNE) has a registry for patients who wish to be contacted about clinical research opportunities.

For more information on the registry see: https://neptune-study.org/get- involved/

Last updated on 04-27-20

Name: National Kidney Foundation 30 East 33rd Street
New York, NY, 10016, United States
Phone: 212-889-2210 Toll Free: 800-622-9010 Fax : 212-689-9261 Email: info@kidney.org Url: https://www.kidney.org/
Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: jamesj@eyeresearch.org Url: http://www.eyeresearch.org/
Name: American Association of Kidney Patients 3505 E. Frontage Rd., Suite 315
Tampa, FL, 33607-1796, United States
Phone: 813-636-8100 Toll Free: 800-749-2257 Fax : 813-636-8122 Email: info@aakp.org Url: http://www.aakp.org
Name: Retina International Ausstellungsstr. 36 8005 Zurich
Switzerland
Phone: + 41 (0)44 444 10 77 Email: info@retina-international.org Url: http://www.retina-international.org
Name: American Kidney Fund, Inc. 6110 Executive Boulevard Suite 1010
Rockville, MD, 20852, United States
Phone: 301-881-3052 Toll Free: 866-300-2900 Email: helpline@kidneyfund.org Url: http://www.kidneyfund.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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