A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report / Doença renal policística autossômica recessiva, shunt esplenorrenal e fibrose hepática congênita em adolescente: relato de caso

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.

Enfermedad renal poliquística autosómica recesiva: reporte de un caso / Autosomal recessive polycystic kidney disease: a case report

La enfermedad renal poliquística es una enfermedad genética que se caracteriza por dilataciones quísticas progresivas de los túbulos renales, presentándose de forma autosómica dominante o recesiva, con una incidencia de 1 en 1.000 y 1 en 20.000 nacidos vivos, respectivamente según series internacionales. La variedad autosómica recesiva puede ser letal en el período neonatal debido a insuficiencia respiratoria secundaria a hipoplasia pulmonar, y puede manifestarse durante la infancia con hipertensión arterial, talla baja y complicaciones secundarias a hipertensión portal. PRESENTACIÓN DEL CASO: paciente preescolar de 3 años 11 meses, con antecedente de restricción del crecimiento fetal y oligohidroamnios en período prenatal, presenta cuadro de decaimiento, palidez y dificultad alimentaria progresiva con vómitos posprandiales, destacando al examen físico un soplo cardíaco, hipertensión arterial, esplenomegalia, circulación colateral, además de talla baja. En exámenes destaca un hemograma con pancitopenia periférica, ecografía abdominal con hepatoesplenomegalia, hallazgos compatibles con enfermedad renal poliquística autosómica recesiva y fibrosis periportal, cintigrama renal con hipofunción renal bilateral, test de sangre oculta en deposiciones positivo, endoscopía digestiva alta convárices esofágicas pequeñas, radiografía de carpo con edad ósea retrasada y ecocardiografía con cardiomegalia. DISCUSIÓN: se requiere un alto índice de sospecha ante esta enfermedad poco frecuente, que cursa con hipertensión portal, siendo el recuento de plaquetas el mejor predictor de severidad. Dado que carece de tratamiento curativo y su historia natural es progresar haciala insuficiencia renal terminal, su tratamiento se enfoca en las complicaciones secundarias al daño hepático y renal...

Polycystic Kidney Disease is a genetic disorder characterized by progressive cystic dilations of the renal ducts, presenting as autosomal dominant or recessive forms with an incidence of 1 in 1.000 and 1 in 20.000 births, respectively, according to international series. The autosomal recessive variety can be lethal in the neonatal period due to respiratory failure secondary to pulmonary hypoplasia and can manifest during childhood with hypertension, short stature and complications of portal hypertension. CASE REPORT: 3 years and 11 months old preschoolar with antecedent of fetal growth restriction and oligohydramnios during prenatal period, and a historyof asthenia, pallor and progressive feeding difficulty with postprandial vomiting. Physical examination shows cardiac bruit, hypertension, splenomegaly, caput medusae and short stature. Laboratory tests with peripheral pancytopenia; abdominal ultrasonography showed hepatosplenomegaly, findings consistent with autosomal recessive polycystic kidney disease and periportalfibrosis; renal scintigraphy with bilateral kidney failure; a positive fecal occult blood test; an upper endoscopy that shows small esophageal varices; a hand radiography that shows bone age delayed and an echocardiography with cardiomegaly. DISCUSSION: This infrequent disease requires a high degree of suspicion by the clinician and presents with portal hypertension, with platelet count being the best predictor of severity. This condition has no cure and will progress to end-stage renal disease in any moment, so the aim is to minimize and treat renal and hepatic complications...

Evaluación de un paciente operado de hipernefroma hace 3 años con diagnóstico enfermedad renal crónica / Evaluation of a renal cell carcinoma operative patient since three years with chronic kidney disease diagnosis

La presencia de carcinoma de células renales durante la evolución de una enfermedad poliquística renal autosómica dominante es muy rara y poco reportada en la literatura internacional. El carcinoma renal suele manifestarse clínicamente de forma tardía, por lo que aproximadamente un tercio de los pacientes presentan metástasis a distancia en el momento del diagnóstico. Se reporta un caso de enfermedad poliquística renal asociado con carcinoma de células renales operado hace 3 años con tratamiento clínico conservador, además de diagnosticado con una enfermedad renal crónica avanzada el cual ha mantenido una evolución estable.

The presence of renal cell carcinoma during the evolution of an autosomal dominant polycystic kidney disease is very rare and little reported in international literature. Clinical manifestations of renal cell carcinoma are often late, so that approximately one-third of patients have metastatic disease at the time of diagnosis. It is reported a case of polycystic renal disease associated with renal cell carcinoma operated three years ago with conservative clinical treatment, besides he had been diagnosticated with an advanced chronic kidney disease who had mantained an stable evolution.

Caroli Syndrome with Autosomal Recessive Polycystic Kidney Disease / 대한소화기학회지

No abstract available.

Caroli's Syndrome with Autosomal Recessive Polycystic Kidney Disease in a Two Month Old Infant

Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare. Here, we present a case of a two month old boy who was diagnosed with Caroli's syndrome and ARPKD.

Pulmonary hypertension in a child with juvenile-type autosomal recessive polycystic kidney disease

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.