Congenital hepatic fibrosis was found in four families with autosomal-dominant polycystic kidney disease. Congenital hepatic fibrosis is commonly though to be characteristic for autosomal-recessive polycystic kidney disease, but the reported families, show that it can also complicate autosomal-dominant polycystic kidney disease. In three families close linkage between the mutation causing the disease and DNA markers on chromosome 16 was demonstrated. The clinical course of the congenital hepatic fibrosis differed considerably; in one family the children with congenital hepatic fibrosis died soon after birth, in the three other families an approximately 20 years follow-up showed no detectable progression of the liver disease.
[Show abstract][Hide abstract] ABSTRACT: Polycystic kidney disease in Persian cats culminates in chronic renal failure after a variable clinical course. An affected 6-year-old Persian cat was used to establish a colony of cats with polycystic kidney disease. In affected cats, cysts could be detected by ultrasonography as early as 7 weeks of age. Absence of cysts on ultrasound examination at 6 months of age was correlated with absence of polycystic kidney disease at necropsy. Both males and females were affected and, of progeny from affected x unaffected crosses, 42% were affected and 58% were unaffected. In affected x affected crosses, 73% of progeny were affected and 27% were unaffected. These results are compatible with autosomal dominant inheritance of this trait. Polycystic kidney disease in Persian cats resembles autosomal dominant polycystic kidney disease (ADPKD) in human beings, and represents a valuable animal model of the human disease.
Journal of Heredity 01/1996; 87(1):1-5. DOI:10.1093/oxfordjournals.jhered.a022945 · 2.09 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The widespread availability of ultrasound imaging has led to more frequent recognition of cystic disease affecting the liver and biliary tract. There is a wide range of possible causes. Cystic disease of infective origin is usually caused by an Echinococcal species, or as the sequel of a treated amoebic or pyogenic abscess. The clinical and radiological features are often then distinctive and will not be dwelt upon in this review, except in respect of their contribution to the differential diagnosis of non-infective disorders. The principal non-infective cysts can be conveniently divided between the simple cyst, the polycystic syndromes (usually with coexistent renal disease), Caroli's syndrome, and choledochal cysts. The overlap between constituent members of these groups, and the association of cystic disease with hepatic fibrosis (especially with congenital hepatic fibrosis) has attracted considerable attention, and it has been suggested that they may all be considered to belong to a hepatobiliary fibrocystic continuum. In addition there are a variety of cystic neoplasms and a miscellany of unusual forms.
Gut 10/1991; Suppl(Suppl):S116-22. DOI:10.1136/gut.32.Suppl.S116 · 14.66 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Autosomal-dominant polycystic kidney disease (ADPKD), largely neglected for several decades, has emerged in recent years as the renal disease most likely to be understood from the gene to the patient. Major breakthroughs have occurred in the genetics of the disorder and new experimental data is providing insights in the pathobiology of cyst formation (Table 1).
Kidney International 01/1992; 40(6):989-96. DOI:10.1038/ki.1991.306 · 8.56 Impact Factor
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