title: Clinical aspects of autosomal recessive polycystic kidney disease.
abstract: BACKGROUND
  Autosomal Recessive Polycystic Kidney Disease (ARPKD) is an important pediatric cause of morbidity and mortality, with a variable clinical spectrum.
  
  
  METHODS
  The clinical presentation and evolution of 25 patients (Pts) were analyzed by clinical record review, according to the forms proposed by Guay-Woodford et al. Morbidities associated with the disease were evaluated with respect to their frequencies and age of onset.
  
  
  RESULTS
  The median age at the diagnosis was 61.45 months (0 to 336.5 months), with similar gender distribution (52% of the patients were female). A family ARPKD history was found in 20% of the cases (5/25), two of them associated with consanguinity. On arrival, arterial hypertension (SAH) was diagnosed in 56% of the Pts (14/25); chronic kidney disease stage ≥ 2 (CKD ≥ 2) in 24% (6/25); urinary tract infection (UTI) in 40% (10/25); and portal hypertension (PH) in 32% of the cases (8/25). Eighty percent of the initial abdominal ultrasonograms detected echogenic kidneys with gross cysts and 64% demonstrated normal liver and biliary ducts. ACE inhibitors were used in 36% of the analyzed patients, beta-blockers in 20%, calcium channel blockers in 28%, and diuretics in 36% of them. In the final evaluation, after an average follow-up time of 152.2 months (29.8 to 274.9 months), SAH was detected in 76% of the cases, CKD ≥ 2 in 44%, UTI in 52% and PH in 68%.
  
  
  CONCLUSIONS
  The high morbidity and mortality associated with ARPKD justify the assembly of an international database, with the aim of establishing an early therapeutic support.
authors.affiliation: Universidade de São Paulo, Brazil.
authors.forename: Natasha Favoretto
authors.initials: NF
authors.lastname: Dias
authors.forename: Vivian
authors.initials: V
authors.lastname: Lanzarini
authors.forename: Luiz Fernando
authors.initials: LF
authors.lastname: Onuchic
authors.forename: Vera Hermina Kalika
authors.initials: VH
authors.lastname: Koch
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis*; D012189:Retrospective Studies; D055815:Young Adult