Aspectos clínicos da doença renal policística autossômica recessiva DRPAR

Dias, Natália Martins; Lanzarini, Vivian; Onuchic, Luiz Fernando; Koch, Vera H.

doi:10.1590/s0101-28002010000300007

Cited by 16 publications

(2 citation statements)

References 10 publications

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“…The current definition of thrombocytopenia is the platelet count of <100,0000/µl and this was adopted to our analysis. Hypersplenism was observed in 47% of our patients, which is consistent with the other published data (8,(11)(12)(13).…”

Section: Discussionsupporting

confidence: 93%

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

et al. 2020

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Section: Discussionsupporting

confidence: 93%

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

et al. 2020

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“…Autosomal recessive polycystic kidney disease (ARPKD) belongs to the group of congenital hepatorenal fibrocystic syndromes and constitutes a significant cause of renal- and liver-related morbidity and mortality in children (1, 2). Liver involvement in the form of congenital hepatic fibrosis (CHF) is invariably present in all ARPKD patients (3–5).…”

Section: Introductionmentioning

confidence: 99%

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease

et al. 2019

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Introduction: Congenital hepatic fibrosis (CHF) is invariably present in all patients with autosomal recessive polycystic kidney disease (ARPKD) but is usually clinically asymptomatic. The portal hypertension in the course of CHF develops and progresses over time, so an early detection of liver fibrosis remains crucial.Aim: The aim of the study was to evaluate a predictive value of transient elastography for evaluating liver disease progress in pediatric ARPKD patients.Material and Methods: The study group encompassed 21 pediatric patients with ARPKD and 20 healthy children (control group) from The Children's Memorial Health Institute in Warsaw, Poland. Liver fibrosis was determined by assessing the liver stiffness (LS) with transient elastography (FibroScan®, FS) using size-appropriate probes. In ARPKD group the laboratory findings, results of an abdominal ultrasound examination, and an endoscopic gastroduodenoscopy were also analyzed.Results: Compared with healthy controls, patients with ARPKD had significantly increased median LS values (22 vs. 4.25 kPa, p < 0.0001). Based on FS results, ARPKD group was divided into two subgroups: patients (n = 5) with LS results suggestive of no fibrosis or minimal fibrosis (LS < 6.9 kPa, METAVIR fibrosis stage 0–1) and patients (n = 16) with LS results suggestive of at least significant liver fibrosis (LS ≥ 6.9 kPa, METAVIR fibrosis stage 2–4). In the first subgroup (no fibrosis or minimal fibrosis), all patients had no signs of portal hypertension. In the subgroup with at least significant liver fibrosis, splenomegaly was observed in 87.5% of patients and thrombocytopenia in 69% of patients. An endoscopic gastroduodenoscopy was performed in 15 out of 21 ARPKD patients, nine patients (60%) had esophageal varices. All of these patients had LS results suggestive of at least significant liver fibrosis.Conclusions: TE by FibroScan can be used as an additional method for evaluating liver disease progress in pediatric ARPKD patients.

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Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

Büscher

Weber

et al. 2013

Pediatr Nephrol

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Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in the PKHD1-gene on chromosome 6. The characteristic dilatation of the renal collecting ducts starts in utero and can present at any stage from infancy to adulthood. Renal insufficiency may already begin in utero and may lead to early abortion or oligohydramnios and lung hypoplasia in the newborn. However, there are also affected children who have no evidence of renal dysfunction in utero and who are born with normal renal function. Up to 30 % of patients die in the perinatal period, and those surviving the neonatal period reach end stage renal disease (ESRD) in infancy, early childhood or adolescence. In contrast, some affected patients have been diagnosed as adults with renal function ranging from normal to moderate renal insufficiency to ESRD. The clinical spectrum of ARPKD is broader than previously recognized. While bilateral renal enlargement with microcystic dilatation is the predominant clinical feature, arterial hypertension, intrahepatic biliary dysgenesis remain important manifestations that affect approximately 45 % of infants. All patients with ARPKD develop clinical findings of congenital hepatic fibrosis (CHF); however, non-obstructive dilation of the intrahepatic bile ducts in the liver (Caroli's disease) is seen at the histological level in only a subset of patients. Cholangitis and variceal bleeding, sequelae of portal hypertension, are life-threatening complications that may occur more often in advanced cases of liver disease. In this review we focus on common and uncommon kidney-related and non-kidney-related phenotypes. Clinical management of ARPKD patients should include consideration of potential problems related to these manifestations.

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Aspectos clínicos da doença renal policística autossômica recessiva DRPAR

Cited by 16 publications

References 10 publications

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease

Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

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