Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. It is one of the fibropolycystic diseases, which also include Caroli disease, autosomal dominant polycystic kidney disease, and autosomal recessive polycystic kidney disease. Clinically it is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. CHF is known to occur in association with a range of both inherited and non-inherited disorders, with multiorgan involvement, as a result of ductal plate malformation. Because of the similarities in the clinical picture, it is necessary to differentiate CHF from idiopathic portal hypertension and early liver cirrhosis, for which a liver biopsy is essential. Radiological tests are important for recognizing involvement of other organ systems. With regards to our experience at Hacettepe University, a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 with a diagnosis of CHF. Presentation with Caroli syndrome was the most common diagnosis, with all such patients presenting with symptoms of recurrent cholangitis and symptoms related to portal hypertension. Although portal fibrosis is known to contribute to the ensuing portal hypertension, it is our belief that portal vein cavernous transformation also plays an important role in its pathogenesis. In all patients with CHF portal vein morphology should be evaluated by all means since portal vein involvement results in more severe and complicated portal hypertension. Other associations include the Joubert and Bardet-Biedl syndromes.
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PMID:Experience of a single center with congenital hepatic fibrosis: a review of the literature. 2013 15

Tolvaptan is a new agent in the treatment of normovolemic and hypervolemic hyponatremia. It is a V(2) receptor antagonist inducing free water diuresis. It has been recently approved in USA and Europe for the treatment of hyponatremia associated with SIADH, cirrhosis as well as heart failure, while in hypovolemic hyponatremia its use is contraindicated. The drug also appears to be effective in the acute exacerbations of heart failure that need hospitalization. In the short-term tolvaptan seems to relieve acute congestive symptoms and improves mortality. However, the long-term effects on mortality are still controversial. The favorable short-term effects are ascribed to the selective V(2) receptor blocking, while the unopposed stimulation of V(1A) may give an explanation for the lack of long-term benefit. The drug should be initiated in the hospital setting because careful monitoring of fluid balance is recommended. It is administered orally giving the advantage of continuation in the outpatient setting. Moreover tolvaptan may have a role in the treatment of autosomal dominant polycystic kidney disease (ADPKD). Its effectiveness has been shown in animal models and Phase 3 clinical trial as well as an open-label study is now active. Since tolvaptan is metabolized by the cytochrome CYP3A4 in the liver physicians should be aware of possible drug to drug interactions. Resulting from large studies tolvaptan appears well tolerated. Common side effects are thirst, dry mouth and polyuria. Tolvaptan opens a new page not only in the treatment of normovolemic and hypervolemic hyponatremia but also in the treatment of acute decompensated heart failure and probably in ADPKD.
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PMID:Tolvaptan: a new therapeutic agent. 2086 52

Combined liver-kidney transplantations (CLKT) and kidney after liver transplantations (KALT) are established treatments for patients with end-stage hepatic and renal disease and the number of transplantations has continuously increased over the past few years. The most frequent indications for CLKT in adults are polycystic kidney disease with severe liver involvement and liver cirrhosis of different origins with concomitant chronic kidney failure due to chronic glomerulonephritis or diabetic nephropathy. In children, CLKT is most frequently required due to primary oxalosis type I. At present the main indication for KALT still is calcineurin inhibitor-induced chronic nephrotoxicity, emphasizing the need for a nephron-sparing long-term immunosuppression in liver transplant recipients. Compared to KALT, the indications for CLKT are not as well defined and the decision must therefore be made on a case-by-case basis by a multidisciplinary team of experienced clinicians to avoid unnecessary transplantations of both organs in patients with reversible kidney failure, given the scarcity of organs for transplantation worldwide. In hepatorenal syndrome CLKT should only be considered if the GFR is lower than 20 ml/min for more than three months or if the patient has been on renal replacement treatment for more than one month. In CLKT, there appears to be a certain immunological protection for the kidney transplant by the liver transplant.
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PMID:[Combined liver-kidney and kidney after liver transplantation: indications and experiences from a nephrological perspective at a single center]. 2092 39

A group of disorders with disparate symptomatology, including congenital cerebellar ataxia, retinal blindness, liver fibrosis, polycystic kidney disease, and polydactyly, have recently been united under a single disease mechanism called 'ciliopathies'. The ciliopathies are due to defects of the cellular antenna known as the primary cilium, a microtubule-based extension of cellular membranes found in nearly all cell types. Key among these ciliopathies is Joubert syndrome, displaying ataxia, oculomotor apraxia, and mental retardation* with a pathognomonic 'molar tooth sign' on brain magnetic resonance imaging. The importance of ciliary function in neuronal development has been appreciated only in the last decade with the classification of Joubert syndrome as a ciliopathy. This, together with the identification of many of the clinical features of ciliopathies in individuals with Joubert syndrome and the localization of Joubert syndrome's causative gene products at or near the primary cilium, have defined a new class of neurological disease. Cilia are involved in diverse cellular processes including protein trafficking, photoreception, embryonic axis patterning, and cell cycle regulation. Ciliary dysfunction can affect a single tissue or manifest as multi-organ involvement. Ciliary defects have been described in retinopathies such as retinitis pigmentosa and Leber congenital amaurosis (defects in photoreceptor ciliary protein complexes), renal syndromes with nephronophthisis and cystic dysplastic kidneys, and liver conditions such as fibrosis and biliary cirrhosis. Recognizing the diverse presentations of the ciliopathies and screening strategies following diagnosis is an important part of the treatment plan of children with cilia-related disorders.
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PMID:The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. 2167 65

During the last years renal abscesses are being diagnosed with increasing frequency in Nephrology departments. Progresses achieved in imaging procedures permit a timely diagnosis of renal abscesses. At the same time modern antibiotic therapies permit the treatment of this disease in Nephrology departments. In the current paper we present some specifics of renal abscess management encountered in a Nephrology department in western Romania. We performed a retrospective analysis of 2793 patients with upper urinary tract infection hospitalised during 2002-2009 in our Nephrology Department, of whom 44 showed renal abscesses. Uropathic factors were identified less frequently, in 28% of the renal abscess cases, compared to cases in the literature where these have been reported in over 50% of the patients. General predisposing conditions were pregnancy in 7%, postviral cirrhosis in 4%, diabetes mellitus in 4%, surgically single kidney in 2%, polycystic kidney disease in 4% of the patients. We diagnosed renal abscesses in relatively young patients (mean age 38.73 +/- 19.64), fact that could be due to a decreased immune resistance of these patients. Renal function impairment was present in 17% of the patients. Urine cultures were positive in 25% with a predominance of E. coli and rarely of other germs (e.g. Citrobacter and Candida albicans). Therapy consisted of broad spectrum antibiotics applied to all patients. Two patients required the insertion of double J catheter. Five patients (11%) were referred to the Urology Department, where one patient underwent nephrectomy. Renal abscess was diagnosed and treated in the majority of cases in the Nephrology Department, and only in special cases is a referral to the Urology clinic required.
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PMID:Specifics of the renal abscess in nephrology: observations of a clinic from a county hospital in Western Romania. 2202 54

Ulnar dimelia or commonly called mirror hand is a rare congenital anomaly of upper extremity characterized by duplication of ulna, absence of the radius with symmetrical polydactyly. This anomaly may be associated with shoulder dislocation, fibular dimelia, idiopathic scoliosis, cirrhosis, pyloric hypertrophy or polycystic kidney. We report a new case of this rare congenital anomaly which was not associated with any other malformation.
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PMID:Congenital mirror hand deformity. 2307 88

Arginine vasopressin (AVP) plays an important role in water and sodium homeostasis. It acts via three receptor subtypes-V1a, V1b, and V2-distributed widely throughout the body. Vaptans are nonpeptide vasopressin receptor antagonists (VRA). By property of aquaresis, VRAs offer a novel therapy of water retention. Conivaptan is a V1a/V2 nonselective VRA approved for euvolemic and hypervolemic hyponatremia. Tolvaptan is the first oral VRA. Other potential uses of this new class of drugs include congestive heart failure (CHF), cirrhosis of liver, syndrome of inappropriate secretion of antidiuretic hormone, polycystic kidney disease, and so on. These novel drugs score over diuretics as they are not associated with electrolyte abnormalities. Though much remains to be elucidated before the VRAs are applied clinically, the future holds much promise.
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PMID:Vaptans: A new option in the management of hyponatremia. 2377 17

Portal hypertensive gastropathy (PHG) is a gastric mucosal lesion complicating portal hypertension, with higher prevalence in decompensated cirrhosis. PHG can sometimes complicate autosomal dominant polycystic kidney disease (ADPKD) due to the presence of multiple liver cysts. Besides, PHG is known to present as chest pain, with or without hematemesis. Other causes of chest pain in ADPKD include referred chest pain from progressively enlarging kidney cysts, and rare pericardial cysts. Chest pain, especially if pleuritic, in end-stage renal disease (ESRD) patients, is often ascribed to uremic pericarditis. We present recurrent pleuritic chest pain in a 24-year old ESRD patient with ADPKD that was initially misdiagnosed as uremic pericarditis. It was ultimately shown to represent symptomatic PHG with excellent therapeutic response to proton pump inhibitors.
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PMID:Pleuritic chest pain from portal hypertensive gastropathy in ESRD patient with autosomal dominant polycystic kidney disease misdiagnosed as pericarditis. 2706 69

Liver transplantation (LT) activity started in Spain in 1984 and has exceeded 23,700 interventions, with more than 1000 transplants performed yearly. Every hospital needs official authorization to perform a LT, which implies the obligation to register all patients on the national waiting list. The Spanish National Transplant Organization (ONT) provides essential support for organ procurement, allocation, and management of the waiting list at a national level. Liver allocation is center-oriented as all available organs are referred to the ONT for the whole country. The allocation rules for LT are made according to disease severity after consensus among professionals from every transplant center and ratified by representatives of the regional health authorities. Authorization and location/distribution of transplant centers are regulated by the country (Spain) and by the different regions according to the Real Decreto 1723/2012. For a total population of 47,850,795 inhabitants, there are 24 centers for LT for adults (1 team/2 million people) and 5 for LT for children (1 team/9.5 million people). Nonbiliary cirrhosis, particularly alcohol- and hepatitis C virus-related cirrhosis (60%), and tumors, mainly hepatocellular carcinoma (19%), are the most common indications for LT in Spain. Unusual causes of LT include metabolic diseases like Wilson's disease, familial amyloid polyneuropathy and hyperoxaluria type I, polycystic kidney and liver disease, and some tumors (epithelioid hemangioendothelioma and neuroendocrine tumors). Important efforts are now being undertaken to improve the quality and transplantability of extended criteria livers, in particular those arising from DCD, which represent the greatest opportunity to expand the donor pool. These efforts have to be addressed to adapt the organ preservation procedures, be it through the application of regional perfusion in situ or the use of machine perfusion preservation ex situ. Liver Transplantation 22 1259-1264 2016 AASLD.
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PMID:Liver transplantation in Spain. 2719 47

There are two common types of hereditary polycystic kidney diseases, autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease. Congenital hepatic fibrosis is an autosomal recessive disorder and can occur in hereditary polycystic kidney disease. Therefore, hereditary polycystic kidney disease is one of the causes of unexplained liver fibrosis and liver cirrhosis.
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PMID:[Hereditary polycystic kidney disease: a neglected etiology of liver cirrhosis]. 2793 56


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