ABSTRACT
ABSTRACT A 16-year-old female patient previously diagnosed with autosomal recessive polycystic kidney disease (ARPKD) presented with acute bilateral pneumonia, upper gastrointestinal bleeding caused by ruptured esophageal varices, ascites, and lower limb edema. She required intensive care and an endoscopic procedure to treat the gastrointestinal bleeding. The analysis of the differential diagnosis for chronic liver disease indicated she had a spontaneous splenorenal shunt. Ultrasound-guided biopsy revealed the patient had cirrhosis, as characteristically seen in individuals with ARPKD. She had no symptoms at discharge and was referred for review for a combined transplant.
RESUMO Relato de caso de uma paciente adolescente de 16 anos de idade com diagnóstico prévio de doença renal policística autossômica recessiva (DRPAR), que apresentou quadro agudo de pneumonia bilateral e hemorragia digestiva alta por ruptura de varizes esofágicas, bem como ascite e edema de membros inferiores. Necessitou de estabilização clínica intensiva e tratamento endoscópico do sangramento digestivo. Após investigação dos diagnósticos diferenciais da hepatopatia crônica, diagnosticou-se shunt esplenorrenal espontâneo, e realizou-se biópsia hepática guiada por ecografia com diagnóstico de cirrose, espectro típico da DRPAR. Recebeu alta hospitalar assintomática e foi encaminhada para avaliação de transplante duplo.
Subject(s)
Humans , Female , Adolescent , Arteriovenous Anastomosis/pathology , Polycystic Kidney, Autosomal Recessive/complications , Caroli Disease/complications , Liver Cirrhosis/complications , Arteriovenous Anastomosis/diagnostic imaging , Referral and Consultation , Renal Veins/diagnostic imaging , Biopsy , Brazil , Angiotensin-Converting Enzyme Inhibitors/therapeutic use , Intensive Care Units, Pediatric , Treatment Outcome , Polycystic Kidney, Autosomal Recessive/drug therapy , Polycystic Kidney, Autosomal Recessive/diagnostic imaging , Caroli Disease/pathology , Caroli Disease/drug therapy , Magnetic Resonance Angiography , Adrenergic beta-Agonists/therapeutic use , Diuretics, Potassium Sparing/therapeutic use , Liver Cirrhosis/pathology , Liver Cirrhosis/drug therapyABSTRACT
An 11 year-old girl, whose condition was diagnosed as juvenile-type autosomal recessive polycystic kidney disease (ARPKD) at five years of age, presented with chest pain and dyspnea that had developed suddenly two months previously. Two-dimensional echocardiography, Doppler study and cardiac catheterization confirmed pulmonary hypertension. The underlying mechanism of the diagnosis was not defined. Two and a half months after the onset of symptoms, the patient died of pulmonary hypertensive crisis. Careful regular checks of cardiopulmonary status using two-dimensional echocardiography and Doppler should be considered for the early detection of pulmonary hypertension even in an asymptomatic patient with juvenile-type ARPKD.