Abstract
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is an important pediatric cause of morbidity and mortality, with a variable clinical spectrum. 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. 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%. The high morbidity and mortality associated with ARPKD justify the assembly of an international database, with the aim of establishing an early therapeutic support.
Highlights
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is an important pediatric cause of morbidity and mortality, with a variable clinical spectrum
A predominância étnica de acometidos pela doença renal policística autossômica recessiva (DRPAR) foi caucasiana (76%), seguida de ascendência africana (20%) e asiática (4%; 1 paciente)
O diagnóstico pré-natal foi estabelecido em cinco casos (20%), através de ecografia fetal
Summary
O referido estudo foi realizado na Unidade de Nefrologia Pediátrica, Instituto da Criança da Faculdade de Medicina da Universidade de São Paulo e -LIM/29 Disciplina de Nefrologia – HCFMUSP. Introdução: A Doença Renal Policística Autossômica Recessiva (DRPAR) é uma causa importante de morbidade e mortalidade pediátricas, com um espectro variável de manifestações clínicas. Resultados: A idade média de diagnóstico foi de 61,45 meses (0 a 336,5 meses), com distribuição similar entre os sexos (52% dos pts do sexo feminino). Diagnosticou-se hipertensão arterial (HAS) em 56% dos Pts (14/25); doença renal crônica estágio ≥ 2 (DRC ≥ 2) em 24% (6/25); infecções do trato urinário (ITU) em 40% (10/25) e hipertensão portal (HP) em 32% dos casos (8/25). Após um tempo de acompanhamento médio de 152,2 meses (29,8 a 274,9 meses), HAS foi diagnosticada em 76% dos Pts, DRC ≥ 2 em 44%, ITU em 52% e HP em 68%. [J Bras Nefrol 2010;32(3): 263-267 ]©Elsevier Editora Ltda
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