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[Cystic kidney diseases]

M F Gagnadoux1

  • 1Service de néphrologie pédiatrique, Hôpital Necker-Infants malades, Paris.

La Revue Du Praticien
|November 20, 1997
PubMed
Summary
This summary is machine-generated.

Polycystic kidney diseases are the most common inherited kidney conditions, including autosomal dominant and recessive forms. Early detection through renal ultrasonography is crucial for managing these progressive diseases.

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Area of Science:

  • Inherited kidney diseases
  • Genetics of renal cysts
  • Pediatric nephrology

Context:

  • Polycystic kidney diseases (PKDs) are the most prevalent inherited cystic kidney disorders.
  • Two main forms exist: autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD).
  • Other inherited conditions can also present with renal cysts, such as tuberous sclerosis and Hippel-Lindau disease.

Purpose:

  • To differentiate between ADPKD and ARPKD based on inheritance patterns, age of diagnosis, and genetic factors.
  • To highlight the significance of early detection and potential interventions for PKD.
  • To clarify the scope of the term 'polycystic kidney disease' within the broader category of inherited renal cystic conditions.

Summary:

  • ADPKD, often diagnosed in adulthood and linked primarily to the PKD1 gene, affects 1 in 1,000 people and frequently leads to end-stage renal failure by age 55.

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  • ARPKD, a rarer condition associated with a single gene on chromosome 6, is typically diagnosed in infancy with enlarged kidneys and hypertension; renal failure is less common in childhood.
  • Renal ultrasonography enables early detection of ADPKD in childhood, adolescence, or even prenatally.

    • Impact:

    • Early diagnosis of inherited cystic kidney diseases allows for timely management and monitoring.
    • Understanding the distinct genetic and clinical features of ADPKD and ARPKD is vital for accurate diagnosis and prognosis.
    • Distinguishing between different inherited renal cystic conditions ensures appropriate patient care and research focus.