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
Como enfermedades renales poliquísticas hereditarias se describen clásicamente la autosómica recesiva y la autosómica dominante, mal llamadas enfermedad poliquística de tipo infantil y de tipo adulto, respectivamente, pues ambas pueden verse tanto en una como en otra edad. Los conceptos cambiantes en cuanto a la enfermedad autosómica recesiva, dados por los progresos en el tratamiento de los recién nacidos con la enfermedad, y la localización del gen, que por su mutación la produce, nos motivan hacer esta breve revisión con la finalidad de contribuir a la comprensión de la enfermedad por los estudiantes de medicina y el médico general básico.
Recessive autosomal and dominant autosomal polycystic kidney diseases are classically described as hereditary illnesses; they are also called polycystic disease of child type and of adult type respectively since both may be seen in any of these two life stages. The changing concepts of recessive autosomal disease, given the advances made in the treatment of newborns with this disease, and the location of the gen, the mutation of which causes it, encouraged us to make a brief literature review to help medical students and general practitioners to understand this disease.