Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Türkbey, Barış; Ocak, İclal; Daryanani, Kailash; Font–Montgomery, Esperanza; Lukose, Linda; Bryant, Joy; Tuchman, M.; Mohan, Parvathi; Heller, Theo; Gahl, William A.; Choyke, Peter L.; Gunay‐Aygun, Meral

doi:10.1007/s00247-008-1064-x

Cited by 107 publications

(103 citation statements)

References 13 publications

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“…2) [13,16,17]. Although these pathological changes are present at the microscopic level at birth, the significance of these findings is variable, and clinical and radiographic complications of CHF may become apparent at any time between birth and adulthood ( Fig.…”

Section: Hepatobiliary Diseasementioning

confidence: 99%

“…Although these pathological changes are present at the microscopic level at birth, the significance of these findings is variable, and clinical and radiographic complications of CHF may become apparent at any time between birth and adulthood ( Fig. 3) [16][17][18]. Liver manifestations may comprise the major symptomatic disease complications in older patients [4,19].…”

Section: Hepatobiliary Diseasementioning

confidence: 99%

“…3) [3,4]. Such patients demonstrate splenomegaly, hypersplenism with low platelet counts, and gastroesophageal varices with attendant risks of acute bleeding, and they are also at risk of developing bacteremic infections from both splenic dysfunction and cholangitis [3,11,16]. Patients with severe PH and dependent complications (e.g., gastroesophageal varices) may require porto-systemic shunting.…”

Section: Hepatobiliary Diseasementioning

confidence: 99%

“…In addition, after 40 years of age, adult ARPKD patients are at increased risk of developing benign and malignant liver tumors, particularly cholangiocarcinoma [16,20]. Although this is not a significant problem while patients are in pediatric care, it may be important to be aware of this possibility when adolescents are transitioned to internists [20].…”

Section: Hepatobiliary Diseasementioning

confidence: 99%

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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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Section: Hepatobiliary Diseasementioning

confidence: 99%

Section: Hepatobiliary Diseasementioning

confidence: 99%

Section: Hepatobiliary Diseasementioning

confidence: 99%

Section: Hepatobiliary Diseasementioning

confidence: 99%

See 2 more Smart Citations

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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“…Este gen codifica la proteína fibrocistina (policistina) y el factor de crecimiento de hepatocitos cuyas funciones están en el cilio primario. 6 Las ciliopatías son enfermedades multisistémicas por lo que comparten características comunes: polidactilia, retraso mental, retinitis pigmentaria y riñones poliquísticos. En algunos casos también se presentan con enfermedades cardiacas, pulmonares y pancreáticas.…”

Section: Discussionunclassified

Urgencia hipertensiva secundaria a enfermedad poliquística renal autosómica recesiva en lactante. Reporte de caso

Quisbert-Cruz

Zárate-Mondragón

2017

Acta Pediatr Mex

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La enfermedad poliquística renal asociada a la fibrosis hepática congénita es una enfermedad hereditaria; se encuentra dentro del espectro de las enfermedades fibroquísticas hepatorrenales. Su frecuencia estimada es de 1 en 20.000 nacidos vivos para la variedad de enfermedad poliquística renal autosómica recesiva y más rara para la variedad autosómica dominante. Se presenta un reporte de caso de un paciente cuyo padecimiento se inició con crisis hipertensiva de difícil control, debido a enfermedad poliquística renal y fibrosis hepática congénita, presentación clínica poco frecuente; cabe mencionar sobre la importancia del control de la tensión arterial para prevenir complicaciones causadas por la hipertensión arterial: hipertrofia cardiaca, falla cardiaca y retinopatía crónica.

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Renal Ciliopathies

Bergmann

2015

Encyclopedia of Life Sciences

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Defects in centrosome and cilium function lead to phenotypically related syndromes called ciliopathies. Cilia are microtubule‐based antennae that detect and orchestrate extracellular stimuli. As environmental rheostats and cellular signalling centres, they mediate multiple pathways that if disrupted lead to early developmental defects and cancer. Cystic kidney disorders such as polycystic kidney disease (ADPKD/ARPKD) and nephronophthisis (NPHP) play a central role in the elucidation of ciliopathies, and practically, all cilia‐related disorders can show renal cysts. In addition, patients may present with extrarenal manifestations in other organs. An accurate genetic diagnosis is crucial for genetic counselling, prenatal diagnostics and the clinical management of patients and their families. The increasing number of genes that have to be considered in patients with ciliopathies is challenging to address by conventional techniques and largely benefits from next‐generation sequencing (NGS)‐based approaches. Key Concepts Polycystic kidney disease (PKD) constitutes the most common life‐threatening genetic disorder and affects about 10–15 million people worldwide. The majority of patients with PKD harbour mutations in the typical genes for ARPKD and ADPKD; however, mutations in other genes can mimic PKD. PKD paved the way for other cilia‐related disorders of which most can show renal cysts. Renal ciliopathies are characterized by tremendous clinical and genetic heterogeneity. Patients may present with extrarenal manifestations in other organs (e.g. liver cysts, heart defects, retinal degeneration, deafness and intracranial aneurysms). The underlying genotype can usually be identified by next‐generation sequencing (NGS)‐based approaches that allow the parallel analysis of all disease genes. An accurate genetic diagnosis is crucial for genetic counselling, prenatal diagnostics and clinical management (with early detection and treatment of complications).

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Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Cited by 107 publications

References 13 publications

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

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

Urgencia hipertensiva secundaria a enfermedad poliquística renal autosómica recesiva en lactante. Reporte de caso

Renal Ciliopathies

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