PubMed · 10204515
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L A Denson, S J Karpen. 1999. Genetic mutations causing hereditary cholestasis.. https://doi.org/10.1097/00005176-199904000-00021
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The combination of neonatal intrahepatic cholestasis and lymphoedema in feet and legs is a specific syndrome named after the Norwegian paediatrician Øystein Aagenaes, who described the syndrome in 1968. The condition is autosomal recessively inherited and the gene is located to 15q, but not yet identified. The condition is particularly frequent in the southern most part of Norway and the gene frequency is estimated to be about 3%. The development of small lymphoid vessels is probably deficient around the small biliary tracts and in general. Aagenaes' syndrome is found in patients from other parts of Europe and the US, but more than half of the cases are of Norwegian origin.
The aim of the present study was to evaluate the rate of intrahepatic cholestasis of pregnancy in first-degree relatives of index patients. Index patients (n=65) with singleton pregnancies complicated by intrahepatic cholestasis were identified among the women (n=11 984) who gave birth at Kuopio University Hospital in 1994-1998. The pregnancy histories of relatives of 56 index patients were reviewed and the rate of cholestasis in first-degree relatives was compared with that in the general obstetric population. Obstetric cholestasis was experienced by 9% of the parous sisters and 11% of the mothers of the index patients. The risk per delivery was 6% in the first-degree relatives. The rate in the general obstetric population was 0.54%. The odds ratios and 95% confidence intervals were 12.6 (5.6-28.1) for the sisters and 12.2 (6.2-24.2) for the mothers. Obstetric cholestasis clusters within some families and is under strong genetic influence, although the precise genetic pattern remains obscure. The sisters of index patients are at an increased risk of the disorder and may benefit from close obstetric care.
This article reviews the literature that evaluates pruritic urticarial papules and plaques of pregnancy, herpes gestationis, and intrahepatic cholestasis of pregnancy and their impact on the fetus. Using MEDLINE years 1966 to 1999, a literature search was performed using the terms pregnancy, dermatology, pruritic urticarial papules and plaques of pregnancy, herpes gestationis, and intrahepatic cholestasis of pregnancy. References from the selected papers were then reviewed for additional sources. Thirty-seven studies were reviewed. Both original studies and review articles were included in the sources. The results of each study as originally reported are included to provide the reader the finding of each. The available literature reports no risk with pruritic urticarial papules and plaques of pregnancy; however, the current opinion of most was that there is an increased risk with herpes gestationis and intrahepatic papules and plaques of pregnancy. Although much information is known concerning these unique conditions, a consensus regarding their effect on the fetus has yet to be reached. Pregnancies affected by herpes gestationis and cholestasis of pregnancy should be considered high risk until more definitive evidence can be gained.