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Related Concept Videos

Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
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IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document any history...
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[Pseudoxanthoma elasticum and nephrocalcinosis].

R Chraïbi1, N Ismaili, F Belgnaoui

  • 1Service de Dermatologie, CHU Ibn Sina, Hôpital Avicenne, Rabat, Maroc. belama@caramail.com

Annales De Dermatologie Et De Venereologie
|November 6, 2007
PubMed
Summary

Pseudoxanthoma elasticum (PXE), a genetic disorder causing calcification, is rarely associated with kidney calcification (nephrocalcinosis). This case highlights a potential, though infrequent, link between PXE and renal manifestations.

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Area of Science:

  • Genetics
  • Dermatology
  • Nephrology

Background:

  • Pseudoxanthoma elasticum (PXE) is an inherited disorder characterized by calcification of elastic fibers.
  • Clinical manifestations include skin, eye, and cardiovascular issues.

Observation:

  • A 24-year-old woman with PXE presented with typical skin and ocular findings.
  • Asymptomatic bilateral nephrocalcinosis was incidentally discovered via abdominal ultrasound.
  • Blood and urine calcium/phosphorus levels and cardiovascular tests were normal.

Findings:

  • This case reports a rare association between pseudoxanthoma elasticum and nephrocalcinosis.
  • PXE is increasingly linked to visceral calcifications, but renal involvement is exceptionally uncommon.
  • Only two prior cases of PXE with nephrocalcinosis were identified in a cohort of 11 patients.

Implications:

  • The co-occurrence of PXE and nephrocalcinosis may represent a rare manifestation of PXE.
  • Further research is needed to determine if this association is coincidental or a characteristic feature of the disease.
  • This finding underscores the importance of considering broader systemic involvement in PXE patients.