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Clinical aspects of autosomal recessive polycystic kidney disease

Natasha Favoretto Dias1, Vivian Lanzarini, Luiz Fernando Onuchic

  • 1Universidade de São Paulo, Brazil.

Jornal Brasileiro De Nefrologia
|November 25, 2010
PubMed

Insights

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a serious pediatric condition. Early diagnosis and intervention are crucial due to high rates of hypertension, kidney disease, and portal hypertension in patients.

Area of Science:

  • Pediatric Nephrology
  • Genetics
  • Medical Research

Background:

  • Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a significant pediatric cause of illness and death.
  • The disease presents with a wide range of clinical manifestations.

Purpose of the Study:

  • To analyze the clinical presentation and progression of ARPKD in pediatric patients.
  • To evaluate the frequency and age of onset of morbidities associated with ARPKD.

Main Methods:

  • Retrospective review of clinical records for 25 pediatric patients diagnosed with ARPKD.
  • Assessment of clinical presentation, comorbidities, and treatment using standardized forms.
  • Evaluation of morbidity frequencies and age of onset.

Main Results:

  • Median age at diagnosis was 61.45 months; 52% of patients were female.
  • High initial prevalence of arterial hypertension (56%), urinary tract infections (40%), and portal hypertension (32%).
  • Over a median follow-up of 152.2 months, prevalence increased for arterial hypertension (76%), CKD stage ≥ 2 (44%), UTIs (52%), and portal hypertension (68%).

Conclusions:

  • ARPKD is associated with substantial and progressive morbidity, including hypertension, kidney disease, and liver complications.
  • The high burden of disease underscores the need for an international database to facilitate early therapeutic support.
Abstract

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