Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease

Wehrman, Andrew; Kriegermeier, Alyssa; Wen, Jessica

doi:10.3389/fped.2017.00124

Cited by 21 publications

(15 citation statements)

References 19 publications

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“…For adult patients with occult onset, the current clinical work is more focused on timely diagnosis by liver biopsy, comprehensive assessment of multiple systems, and long-term surveillance of liver and kidney function, portal hypertension, and hepatocellular carcinoma. The management of CHF is directed toward supportive treatment and relieving complications including antifibrotic drugs, antibiotics for cholangitis, and surgical intervention of portal hypertension [55]. Familiar treatments of portal hypertension are embolization and endoscopic ligation for EGVB; splenectomy combined with portosystemic shunting is a better choice for treating repeated variceal bleeding [56,57].…”

Section: Masson×100mentioning

confidence: 99%

Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review

Zhu

Wang

et al. 2020

Gastroenterology Research and Practice

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Background. Congenital hepatic fibrosis is a hereditary fibropolycystic disease caused by ductal plate malformation. It is characterized by portal hypertension, but the manifestations, management, and outcome vary in children and adults. To raise awareness of medical staff, we have comprehensively compared the clinical features of congenital hepatic fibrosis between children and adults. Methods. We retrospectively enrolled all patients diagnosed with congenital hepatic fibrosis at the Huashan Hospital from August 2015 to August 2017 and analyzed their familial, clinical, laboratory, imaging, treatment, and follow-up data in detail. In addition, we reviewed cases with congenital hepatic fibrosis reported in the past 20 years in China and analyzed them according to the patients’ age. Results. A total of eight patients were diagnosed with congenital hepatic fibrosis in the study, including four children and four adults. The onset age of the children, who suffered from severe complications of portal hypertension and needed liver transplantation, ranged from 1 to 15 years old. The disorder developed in adults aged 26 to 60 years old. Three adults complained of recurrent abnormal liver function at the onset of illness, and they mainly received conservative treatments. The literature review included 30 children and 33 adults. In comparison, hepatomegaly was more common in children than in adults (57% vs. 21%, p=0.004). Malformation of kidneys and bile duct abnormalities were common, and multisystem involvement included eyes, other digestive organs, and genital and central nervous systems. Conclusions. Serious complications of portal hypertension developed in children requiring liver transplantation, while adults often had mild-to-moderate liver injuries upon onset. Adults with CHF varied a lot in clinical manifestations. Multiorgan involvement and unusual course are helpful to make a diagnosis. Timely histological assessment by liver biopsy and multidisciplinary cooperation are crucial for definitive diagnosis and early intervention.

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Section: Masson×100mentioning

confidence: 99%

Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review

Zhu

Wang

et al. 2020

Gastroenterology Research and Practice

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“…U rozvinutých stadií HF dominují projevy portální hypertenze s hypersplenizmem, trombocytopenií nebo krvácením z jícnových varixů. Proteosyntetická funkce jater je obvykle zachována či jen mírně snížena [13,15]. Vhodnou intervencí u rekurujících případů jícnového krvácení je zavedení portosystémového zkratu za účelem snížení portálního tlaku.…”

Section: Polycystická Choroba Ledvin Autozomálně Dominantního Typuunclassified

“…U řady pa cientů je třeba léčit případy cholangitidy, ke kterým často predisponují. Izolované, kombinované či sekvenční transplantace jednotlivých orgánů (ledvin/ jater) jsou realizovány na podkladě individuálního posouzení pa cienta [13,15]. V rozsáhlé retrospektivní studii z roku 2016 (n = 202) u pa cientů s PCHLAR s věkem 19 let či nižším byly provedeny transplantace ve věku s mediánem 9 let.…”

Section: Polycystická Choroba Ledvin Autozomálně Dominantního Typuunclassified

“…Portální hypertenze, hypersplenizmus a jícnové varixy jsou přítomny u většiny pa cientů s pokročilou HF. U značné části pa cientů je perinatální průběh komplikován přítomností oligohydramnia, zvětšenými ledvinami a "Potterovou sekvencí" s hypoplazií plic vedoucí k respirační insuficienci a případně k úmrtí až ve 30 % případů [13]. Onemocnění kóduje PKHD1 gen, jeho genový produkt označovaný jako fibrocystin či polyductin představuje nový integrální jako PCHJ-PCHLAD vyznačuje vývojem zřetelného cystického postižení jater.…”

Section: Polycystické Onemocnění Ledvin Autozomálně Recesivního Typuunclassified

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Gastrointestinal tract involvement in hereditary kidney diseases

Merta¹

2018

Gastroent Hepatol

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Souhrn: Dědičná onemocnění ledvin jsou významnou a specifickou skupinou ledvin ných onemocnění, vyznačující se často tendencí k progresi do stadia chronického selhání a systémovým a multiorgánovým charakterem onemocnění. Byl odhalen genový podklad většiny dědičných nefropatií, byl učiněn významný pokrok při výzkumu jejich etiologie a patogeneze a recentně byly zavedeny inovativní postupy jejich léčby. Postižení gastrointestinálního traktu (GIT) u dědičných chorob ledvin může mít různou podobu, rozsah a význam. Ačkoli jen v menšině případů tvoří postižení GIT nedílnou součást klinického obrazu dědičného onemocnění ledvin jako např. cystické postižení jater u polycystické choroby ledvin autozomálně dominantního typu, mohou být i méně časté či výrazné projevy postižení GIT prvním či závažným extrarenálním projevem dědičné nefropatie, které vyžaduje včasné stanovení dia gnózy a léčbu. Klíčová slova: postižení zažívacího traktu-dědičné choroby ledvin-polycystická choroba ledvin-ledvin né cysty-jaterní cysty-kongenitální jaterní fibróza-metody molekulární bio logie Sum mary: Hereditary kidney diseases are an important and specific group of kidney diseases having often systemic and multiorgan characteristics and a tendency to progress to chronic renal failure. The genetic background of the majority of hereditary nephropathies has been reported, an important step has been made to uncover their etiology and pathogenesis, and recently new innovative therapies have been proposed. Gastrointestinal tract (GIT) involvement in hereditary kidney diseases presents in different forms, extents, and intensities. Though only a minor part of hereditary kidney disease, GIT involvement is an integral component of the clinical picture; for example, liver cysts are an important component of autosomal dominant polycystic kidney disease. Even mild symptoms of GIT involvement can be an initial and potentially serious extrarenal manifestation of hereditary nephropathy, which deserves early diagnosis and initiation of treatment.

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“…We aim to review the literature on portal hypertension in PLD and discuss management of related complications. Portal hypertension in context of autosomal recessive polycystic kidney disease with congenital hepatic fibrosis is not within the scope of this review …”

Section: Introductionmentioning

confidence: 99%

Management of portal hypertension and ascites in polycystic liver disease

Bernts

Drenth

Tjwa

2019

Liver International

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Patients suffering from polycystic liver disease may develop Hepatic Venous Outflow Obstruction, Portal Vein Obstruction and/or Inferior Caval Vein Syndrome because of cystic mass effect. This can cause portal hypertension, leading to ascites, variceal haemorrhage or splenomegaly. For this review, we evaluate the evidence to provide clinical guidance for physicians faced with this complication. Diagnosis is made with imaging such as ultrasound, computed tomography or magnetic resonance imaging. Therapy includes conventional therapy with diuretics and paracentesis, and medical therapy using somatostatin analogues. Based on disease phenotype various (non‐)surgical liver‐volume reducing therapies, hepatic or portal venous stenting, transjugular intrahepatic portosystemic shunts and liver transplantation may be considered. Because of complicated anatomy, use of high‐risk interventions and lack of empirical evidence, patients should be treated in expert centres.

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Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease

Cited by 21 publications

References 19 publications

Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review

Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review

Gastrointestinal tract involvement in hereditary kidney diseases

Management of portal hypertension and ascites in polycystic liver disease

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