Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a large three-generation autosomal dominant polycystic kidney disease family from Northern Italy found to be associated with the PKD2 locus. Hepatic involvement (liver cysts, fibrosis, cholelithiasis or jaundice), subarachnoidal hemorrhage (1 case) and esophageal diverticula (1 case) were present in affected individuals. Among the older members, the males (aged 54-61 years) had hepatic cysts or fibrosis and were on chronic hemodialysis, the females (aged 69 and 70 years) had hepatic cysts, hepatomegaly, mild fibrosis and a mild and moderate renal impairment, respectively. In this family, clinical findings do not differ substantially from those reported for PKD1.
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PMID:Autosomal dominant polycystic kidney disease linked to PKD2 locus in a family with severe extrarenal manifestations. 938 66

Polycystic liver disease, commonly associated with polycystic kidney disease, can result in massive hepatomegaly and debilitating symptoms. Surgical intervention for symptomatic polycystic liver disease has been associated with significant morbidity and inconsistent long-term palliation; it is more appropriate in patients with a single dominant cyst or cysts which is/are confined to one lobe. At our institution, nine patients have undergone orthotopic liver transplantation for symptomatic hepatic cysts with excellent long-term results and minimal morbidity and mortality. Surgical candidates were selected based on severe limitations in daily activities and on sequelae of hepatic cystic involvement. Other factors considered were the extent and pattern of hepatic cystic disease, the degree of hepatic and renal dysfunction, and prior surgical intervention. Three patients (33%) required combined liver and kidney transplantation because of renal cystic involvement with renal insufficiency. The one-year survival rate was 89% with excellent symptomatic relief and improved quality of life in all the surviving patients. One death occurred in a significantly malnourished 62-year-old female. Complications included one case each of hepatic artery thrombosis requiring retransplantation, biliary leak necessitating biliary reconstruction, and postoperative bleeding requiring re-exploration. The mean hospital stay was 23 days and the mean intraoperative blood transfusion requirement was 18 units. Our experience demonstrates that appropriately selected patients with extensive hepatic involvement with adult polycystic liver disease can have an excellent outcome with transplantation, with morbidity comparable with other surgical options.
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PMID:Liver transplantation for adult polycystic liver disease. 969 5

We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; and a distinctive facial appearance. The clinical course was marked by severe neurodevelopmental deficits combined with progressive respiratory decompensation leading to death at the age 6 months. Magnetic resonance imaging (MRI) disclosed a generalized cerebral atrophy with a marked deficit of the white matter. Renal ultrasound and MRI showed markedly enlarged kidneys with multiple small cystic lesions, a pattern indistinguishable from polycystic kidney disease. The postmortem kidney biopsy revealed dysplastic changes, microcysts, and a focal nephrogenic rest, characteristic features of the Perlman syndrome. In children with fetal gigantism, renal abnormalities, and neurological deficits, Perlman syndrome should be considered and may be confirmed by kidney biopsy.
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PMID:A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. 1075 Oct 85

Autosomial dominant polycystic kidney disease (ADPKD) is an hereditary affection transmitted in a autosal dominant pattern with variable penetrancy. Diagnosis is based upon ultrasound examination and/or familial history. The authors present a 8 years retrospective hospital study in order to precise the epidemiological and clinico-biological aspects of ADPKD in Dakar. So 23 patients were studied. The mean age at the diagnosis was 46 years. They were 9 men and 14 women (sex ratio 0.64). A past history of familial nephropathy was found in 52.2% of cases. The circumstances of diagnosis were dominated by lombar pain (52.2%) and hypertension (17.4%) but at examination, blood pressure was high in 34.8% and represent the main factor of worsening the disease. Enlargement of kidney was found in 47.8% and hepatomegaly in 13% of cases. Anemia was particularly common 56.5%. The most frequent extra renal manifestation was the liver cysts and occurs mainly in women. National prevalence of ADPKD and the specific gene should be precise in further studies.
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PMID:[Autosomal dominant polycystosis in the hospital milieu in Dakar (Senegal)]. 1079 64

Adult polycystic liver disease, commonly associated with polycystic kidney disease, can result in massive hepatomegaly and debilitating symptoms. Surgical intervention for symptomatic polycystic liver disease, such as cyst fenestration or liver resection has been associated with significant morbidity and inconsistent long-term palliation. However, selected patients with severe symptoms benefit from liver resection and extensive fenestration with acceptable morbidity and mortality. Total hepatectomy and orthotopic liver transplantation may be considered for patients with severe adult polycystic liver disease.
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PMID:Surgery for adult polycystic liver disease. 1112 15

Orthotopic liver transplantation has been recommended for patients with disabling polycystic liver disease (PCLD). Because of the shortage of cadaveric donors, living donor liver transplantation (LDLT) has been developed as an alternative. We describe the case of a woman with PCLD as an extrarenal manifestation of autosomal-dominant polycystic kidney disease (ADPKD) who was successfully palliated by LDLT. The patient was a 48-year-old woman with abdominal distention. Computed tomography showed a massively enlarged liver containing innumerable cysts, as well as bilateral kidney cysts. Hepatic and renal functions were well preserved. Genetic analysis of the family did not exclude linkage to the PKD1 locus. Two and a half years after the first examination, the patient reported severely disabling symptoms caused by the PCLD. Living donor liver transplantation was performed using a right-lobe graft. The recipient and donor were both well 8 months after the transplantation. The excised liver weighed 7.4 kg, and the histopathology revealed multiple cysts and von Meyenburg complexes in the portal areas.
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PMID:Successful living donor liver transplantation for polycystic liver in a patient with autosomal-dominant polycystic kidney disease. 1150 Jun 14

Anesthesia for living-donor liver transplantation (LDLT) was performed for two patients with adult polycystic liver disease (APLD). APLD is characterized by gradual cystic transformation of both lobes of the liver. Abdominal enlargement, poor appetite, abdominal pain, infection of liver cysts and portal hypertension are symptoms of this disease. Liver transplantation is indicated as the final therapy. Our two patients had very large livers (7400 g and 9500 g). The second patient had suffered renal failure due to a polycystic kidney so that continuous hemodiafiltration had to be performed after surgery. In both cases, sudden hypotension frequently occurred during manipulation of the enlarged liver. In the first case, sudden massive bleeding occurred as a result of laceration of the middle and left hepatic vein when the liver was dropped from the surgeon's hand. In both cases, the position of endotracheal tube became 2 cm shallower after surgery probably because of the shift in the position of the mediastinum after elimination of abdominal compression caused by the enlarged liver. One patient was discharged 39 days and the other 115 days after surgery. Anesthesiologists should pay special attention to the features reported here during LDLT for patients with APLD.
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PMID:[Anesthesia for living-donor liver transplantation in a patient with adult polycystic liver disease]. 1270 68

Because the kidneys in patients with autosomal dominant polycystic kidney disease (ADPKD) are usually supplied by well-developed arteries, the authors attempted renal contraction therapy in such patients with renal transcatheter arterial embolization (TAE) using intravascular coils. In most patients with marked nephromegaly, renal TAE was effective. However, in patients with marked hepatomegaly without significant nephromegaly, renal TAE was not effective, and hepatic treatment was always required. In June 2001, the authors obtained approval for a new treatment,"TAE for enlarged polycystic liver," from an ethics committee discussing new treatment at their hospital. A 56-year-old man undergoing hemodialysis for 2 months was referred to the authors' institute with the complaint of severe abdominal distension and loss of appetite in March 2001. Most of the liver (about 90%) had been replaced by multiple cysts, and near-intact hepatic parenchyma was quite scarce. The kidneys were quite small compared with the liver. Angiography results showed that almost all hepatic arterial branches were well developed, although most of the portal vein was obstructed, and only the left medial portal vein was spared; the former corresponded to the hepatic region replaced by multiple cysts and the latter to the preserved intact hepatic parenchyma. The target of TAE was the hepatic arterial branches of the former. Microcoils were used as embolization material. Two years after TAE, abdominal distension has markedly decreased because of decrease in liver size (to 54% of the previous value), and muscle and fat volume in the thoracic region have increased owing to improvement of appetite. Ascites became obscure. Nutrition and activities of daily living have improved. Hepatic TAE may be an option for treatment of patients in poor condition with symptomatic polycystic liver.
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PMID:Intravascular embolization therapy in a patient with an enlarged polycystic liver. 1504 52

We experienced a case of A-59-year-old woman having autosomal dominant polycystic kidney disease with renal insufficiency associated with pelvic insufficiency fracture. On admission the pelvic bone compressed by the enlarged kidney and liver due to polycystic disease was demonstrated on the pelvic CT. Her bone mineral density was not significantly decreased contrary to our expectation. The prominent bone absorption in the endosteal and exosteal surface of the cortical bone was demonstrated in the bone specimen form iliac bone although the state of the cancellous bone and bone formation rate was normal. We performed the transcatheter embolization (TAE) to the kidney and liver to diminish their sizes. The fracture was rapidly improved and she could walk 6 months later after the TAE. In this case, we considered that the longstanding compression to the pelvic bone by the enlarged liver and kidney made the cortical and the binding of muscle/tendon and cortical bone fragile and it led to the pelvic insufficiency fracture.
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PMID:[Case of autosomal dominant polycystic kidney disease associated with pelvic insufficiency fracture]. 1627 34

Adult polycystic liver disease (APLD) is an autosomal dominant condition most commonly associated with polycystic kidney disease. However, over the last decade it has come to be recognized that APLD is a genetically heterogeneous disorder involving derangements on at least three different chromosomes. Mutations involving chromosomes 16 and 4 accounting for autosomal dominant polycystic kidney disease (ADPKD) type 1 and type 2 have been well described as have their gene products, polycystin-1 and polycystin-2. These have since been joined by a more recently recognized mutation in the short arm of chromosome 19 thought to be responsible for a much rarer form of autosomal dominant polycystic liver disease without any associated renal involvement. Despite the sometimes impressive physical and radiologic findings, only a minority of patients will progress to advanced liver disease or develop complications as a result of massive hepatomegaly. In these patients, medical management alone has proved ineffectual. Therefore, in the symptomatic APLD patient, surgical therapy remains the mainstay of therapy and includes cyst aspiration and sclerosis, fenestration with and without hepatic resection and orthotopic liver transplantation. The surgical literature on treatment of APLD, to include outcome measurements and complication rates are summarized. Additionally, we review other potential organ involvement and resultant complications.
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PMID:New advances in evaluation and management of patients with polycystic liver disease. 1627 15


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