Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

X-linked recessive nephrolithiasis with renal failure.

P A Frymoyer1, S J Scheinman, P B Dunham

  • 1Department of Medicine, State University of New York Health Science Center, Syracuse 13210.

The New England Journal of Medicine
|September 5, 1991
PubMed
Summary

This study identifies a new X-linked recessive nephrolithiasis with renal failure in a large family. The disease causes kidney stones, concentrating defects, and renal insufficiency in males.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Attachment kinetics, proliferation rates and vinculin assembly of bovine osteoblasts cultured on different pre-coated artificial substrates.

Journal of materials science. Materials in medicine·2004
Same author

Optimal management of the morbidly obese patient. SAGES appropriateness conference statement.

Surgical endoscopy·2004
Same author

Laparoscopy alone is superior to peritoneal cytology in staging gastric and esophageal carcinoma.

Surgical endoscopy·2004
Same author

Deterministic photon transport calculations in general geometry for external beam radiation therapy.

Medical physics·2004
Same author

Fixed precision sequential sampling plans for the greenbug and bird cherry-oat aphid (Homoptera: Aphididae) in winter wheat.

Journal of economic entomology·2003
Same author

Laparoscopic skills training.

Surgical endoscopy·2003

Area of Science:

  • Nephrology
  • Medical Genetics

Background:

  • Hereditary nephrolithiasis can stem from various genetic disorders.
  • A large kindred with hereditary nephrolithiasis, urinary concentrating defects, nephrocalcinosis, renal insufficiency, and electrolyte wasting was studied.

Observation:

  • The kindred comprised 162 members across six generations, with nine affected males inheriting the condition maternally.
  • Patients presented in childhood with calcium nephrolithiasis and proteinuria, progressing to nephrocalcinosis and renal insufficiency.
  • Renal biopsies showed tubular atrophy, interstitial fibrosis, and glomerulosclerosis, distinct from other hereditary nephritis.

Findings:

  • The inheritance pattern was X-linked recessive, with affected males not transmitting the gene to sons, but daughters becoming carriers.
  • Abnormalities in renal excretion of calcium, phosphate, potassium, and uric acid were noted in adult members.

Related Experiment Videos

  • The disease did not recur in one patient seven years post-renal transplant.

    • Implications:

    • This research describes a novel form of X-linked recessive hereditary renal disease.
    • Physiologic abnormalities appear to manifest after the onset of nephrolithiasis and renal insufficiency.