scholarly journals Alagille Syndrome: Resolution of Xanthomas

1995 ◽  
Vol 9 (4) ◽  
pp. 187-190
Author(s):  
NJ Leonard ◽  
V Dias ◽  
HG Parsons

Alagille syndrome is a rare autosomal dominant disorder characterized by chronic cholestasis due to paucity of intrahepatic biliary ducts, characteristic facies, peripheral pulmonary stenosis, ocular posterior embryotoxon and skeletal abnormalities. Very little information is available on the cholestatic, lipid and lipoprotein profiles in individuals with Alagille syndrome. The course of xanthomatosis and the lipid-lipoprotein profile of a 15-year-old male with incomplete Alagille syndrome with marked xanthomatosis and extremely elevated cholesterols secondary to cholestasis is reported. He showed gradual resolution of xanthomas beginning at age 12 years with a concurrent reduction in his total serum cholesterol. The lipid studies showed that the majority of cholesterol was found in low density lipoprotein (LDL) with lesser amounts in lipoprotein (Lp)-X, a lipoprotein precursor complex seen in patients with cholestasis, and high density lipoprotein (HDL). With resolution of xanthomas, LDL and Lp-X decreased while HDL-cholesterol and apolipoprotein (Apo) A-I increased. Gamma glutamyltransferase and bilirubin decreased but remained 15- and threefold elevated, respectively.

2017 ◽  
Vol 4 (2) ◽  
pp. 83-85
Author(s):  
Nigar Hajiyeva

Hajiyeva N.A.Alagille syndrome is a multisystem, highly variable, autosomal dominant disorder, which can be triggered by spontaneous mutation. This disease primarily affects the liver (chronic cholestasis), heart (most often peripheral pulmonary stenosis), eyes (posterior embryotoxon), face (characteristic features), and skeleton (butterfly vertebrae). The paper presents the clinical case of prolonged jaundice with an increased liver enzymes in infant and no final diagnosis for a long time.KeyWords: Alagille syndrome, chronic cholestasis, ursodeoxycholic acid СИНДРОМ АЛАЖІЛЯ, ЯК СКЛАДНИЙ КЛІНІЧНИЙ ПРИКЛАД З ПЕДІАТРІЧНОЇ ПРАКТИКИ (клінічний випадок)Хаджієва Н.А.Синдром Алажіля є мультисистемним варіабельним аутосомно-домінантним розладом, який є наслідком спонтанної мутації. Це захворювання перед усім уражує печінку (хронічний холестаз), серце (найчастіше периферичний стеноз легеневої артерії), очі (задні ембріотоксони), обличчя (характерні ознаки) і скелет (хребці у вигляді метеликів). В публікації представлений клінічний випадок тривалої жовтяниці з підвищеням печінкових ферментів у дитини раннього віку, у якої протягом тривалого часу неможливо було встановти клінічний діагноз.Ключові слова: синдром Алажіля, хронічний холестаз, урсодеоксихолєва кислота СИНДРОМ АЛАЖИЛЯ КАК СЛОЖНЫЙ КЛИНИЧЕСКИЙ ПРИМЕР ИЗ ПЕДИАТРИЧЕСКОЙ ПРАКТИКИ (клинический случай)Хаджиева Н.А.Синдром Алажиля является мультисистемным вариабельным аутосомно-доминантным расстройством, которое является следствием спонтанной мутации. Это заболевание прежде всего поражает печень (хронический холестаз), сердце (чаще всего периферический стеноз легочной артерии), глаза (задний эмбриотоксон), лицо (характерные признаки) и скелет (позвонки в виде бабочек). В публикации представлен клинический случай длительной желтухи с повышением печеночных ферментов у ребенка раннего возраста, у которого в течение длительного времени невозможно было установить клинический диагноз.Ключевые слова: синдром Алажиля, хронический холестаз, урсодеоксихолевая кислота


2014 ◽  
Vol 20 ◽  
pp. 57-65
Author(s):  
Md Rashidul Hasan ◽  
Parvez Hassan ◽  
Md Abdul Jalil Miah

Context: Abuse of the drug, Phensedyl like any other drug might exert adverse effects on vital organs of th e h u m an body like liver, kidney and heart. Objectives: To determine the effects of Phensedyl intake on the serum biochemical parameters of the addicts in order to access for damages of vital human organs like liver, kidney and heart. Materials and Methods: Study population consisted of 127 male Phensedyl addicts within the ages of 18–55 years of defined criteria from Gaibandha district, a Northern part of Bangladesh, during July 2009 to December 2011. Fifty (50) non-drug dependent healthy men of matched age, height, and socioeconomic status were included as controls from the same community. Biochemical parameters analyzed were – Serum creatinine, SGOT, SGPT and Lipid profiles (total serum cholesterol (TC), Serum triglyceride (TG), serum high-density lipoprotein (HDL) and low-density lipoprotein (LDL) cholesterol determined by semiautomatic biochemistry analyzer using commercially available kits Results: Abuse of Phensedyl appears not to hamper the normal renal and liver function in most of the addicts even after 8 years of Phensedyl intake irrespective of age except in case of 4 abusers. Serum total cholesterol (TC) remained almost unchanged among the addicts abusing Phensedyl for less than 8 years. But very strikingly, addicts taking Phensedyl for more than 8 years had higher trends in serum cholesterol i.e. more than 200 ml/dl. Of the addict’s, 44.36% abusing Phensedyl for less than 8 years had normal triglyceride (TG) values whereas, in 45.66% addicts abusing the drug for more than 8 years had clinically very significantly elevated triglyceride levels, which was also found to be statistically very significant (p value =0.0001), indicating the risk of developing cardiac diseases. Of the total addicts 53.53% had low levels of HDL cholesterol, which is clinically and statistically found to be very significant (p value =0.002). Of the addict’s 43% taking the drug for less than 8 years had normal LDL levels but significantly elevated values were recorded in 34% of the abusers who had been taking the drug for more than 8 years. Conclusion: Long time (> 8 years) Phensedyl abusers are at the high risk of developing Brain stroke, Coronary Heart Disease (CHD), Ischemic stroke or transient ischemic attack (TIA) as there is the triad of: Elevated LDL cholesterol, Low HDL cholesterol and elevated Triglyceride. DOI: http://dx.doi.org/10.3329/jbs.v20i0.17656 J. bio-sci. 20: 57-65, 2012


1994 ◽  
Vol 40 (4) ◽  
pp. 571-573 ◽  
Author(s):  
K M Li ◽  
D E Wilcken ◽  
N P Dudman

Abstract The calculation of serum low-density lipoprotein cholesterol (LDL-C) by the Friedewald formula does not account for the cholesterol associated with lipoprotein(a) [Lp(a)]. To quantify the contribution of Lp(a) cholesterol to total serum cholesterol, we measured concentrations of serum Lp(a) by an ELISA and concentrations of other serum lipids and lipoproteins by standard assays in 23 normolipemic women, ages 50-60 years. In measuring serum high-density lipoprotein we found that polyethylene glycol 6000 precipitated > 99.8% of all Lp(a). When serum Lp(a) concentrations were < or = 300 mg/L, 301-600 mg/L, and > 600 mg/L, the uncorrected serum LDL-C was overestimated, respectively, by a mean of 4.1% (n = 7), 8.5% (n = 8), and 21.4% (n = 8). Serum Lp(a) concentrations were positively correlated with percentage overestimation (P < 0.001), but were not correlated with either corrected or uncorrected serum LDL-C. We conclude that the Friedewald formula should be modified to take into account the contribution of Lp(a) cholesterol to total serum cholesterol.


1980 ◽  
Vol 58 (5) ◽  
pp. 419-421 ◽  
Author(s):  
C. H. Bolton ◽  
LYN Jackson ◽  
C. J. C. Roberts ◽  
M. Hartog

1. Serum and lipoprotein cholesterol and triglycerides were measured before, during and after the administration of glutethimide (500 mg daily) for 21 days to six healthy volunteer subjects. 2. Evidence of enzyme induction was provided by significant rises in d-glucaric acid excretion and antipyrine clearance. 3. Concentrations of total serum cholesterol, very-low-density-lipoprotein-, low-density-lipoprotein-and high-density-lipoprotein-cholesterol rose significantly during treatment. 4. The time course of these changes was delayed in comparison with the rise and fall in d-glucaric acid excretion. 5. There was no change in the triglyceride content of either whole serum or lipoprotein fractions at any time during the trial. 6. The study provides further evidence that enzyme-inducing agents cause a rise in certain lipid concentrations.


PEDIATRICS ◽  
1993 ◽  
Vol 91 (5) ◽  
pp. 949-954
Author(s):  
Markku J. T. Kallio ◽  
Leena Salmenperä ◽  
Martti A. Siimes ◽  
Jaakko Perheentupa ◽  
Tatu A. Miettinen

Objective. To examine the development of tracking of serum cholesterol concentration from birth to childhood. Design. In a longitudinal study of healthy children, concentrations of total serum cholesterol and triglyceride were determined at birth (n = 193); at 2 (n = 192), 4 (n = 192), 6 (n = 190), 7.5 (n = 118), 9 (n = 188), and 12 months (n = 196); and at 5 years of age (n = 162). Concentrations of cholesterol—very-low-density lipoprotein, low-density lipoprotein, high-density lipoprotein-2 (HDL2), and HDL3—were determined at 2, 6, 9, and 12 months (n = 36) and at 5 years (n = 162). Results. The correlation coefficients of total cholesterol levels during the first year of life with the level at 5 years of age were as follows: at birth .04, at 2 months .36 (P < .001), at 4 months .26 (P < .001), at 6 months .28 (P < .001), at 7.5 months .25 (P < .001), at 9 months .35 (P < .001), and at 12 months .48 (P < .001). The correlation for exclusively breast-fed children between 6 months and 5 years of age was r = .37, P < .001, while that for children receiving partially breast milk, formula, or solid foods was r = .12, P = not significant (NS), and between 9 months and 5 years r = .38, P < .01, and r = .28, P < .05, respectively. The correlation coefficients of the lipoprotein levels between ages 12 months and 5 years were as follows: low-density lipoprotein cholesterol .58 (P < .001), total HDL cholesterol .30 (P < .05), HDL2 cholesterol .34 (P < .05), HDL3 cholesterol .17 (P = NS), very-low-density lipoprotein cholesterol .24 (P = NS), total triglyceride .37 (P < .05), and triglyceride-very-low-density lipoprotein .37 (P < .05). Of the children whose total serum cholesterol level was above the 90th percentile at birth, or at 2, 4, 6, 7.5, 9, or 12 months, 6%, 35%, 29%, 30%, 31%, 33%, and 45%, respectively, were above the 90th percentile at 5 years of age. In retrospect, 45% of the children whose serum cholesterol level was above the 90th percentile at 5 years were above the 90th percentile at the age of 12 months and 80% were in the highest quartile. Conclusions. The results indicate that tracking of serum cholesterol concentration during the first year of life is stronger when examining children who are receiving a relatively homogenous diet, such as exclusive breast-feeding, and weaker as children are weaned to formula and solid foods. After the weaning process is completed, children's relative serum cholesterol levels have become established and the tracking of serum cholesterol is of the same magnitude as for older children and adolescents.


2012 ◽  
Vol 90 (11) ◽  
pp. 1456-1468 ◽  
Author(s):  
Tatyana A. Korolenko ◽  
Fedor V. Tuzikov ◽  
Thomas P. Johnston ◽  
Natalia A. Tuzikova ◽  
Yana A. Kisarova ◽  
...  

The effects of repeated administration of poloxamer 407 (P-407) on lipoprotein-cholesterol (LP-C) and lipoprotein-triglyceride (LP-TG) fractions and subfractions, as well as the effect on liver and heart proteases, were studied. Repeated administration of P-407 to male CBA mice resulted in a model of atherosclerosis with increased diastolic blood pressure; there was a drastic increase in total serum cholesterol and especially TG. A novel small-angle X-ray scattering method for the determination of the fractional and subfractional composition of LP-C and LP-TG was used. In chronically P-407-treated mice, P-407 significantly increased atherogenic low-density lipoprotein C (LDL-C) fractions, as well as intermediate-density lipoprotein C (IDL-C), and LDL1–3-C subfractions, and very-low-density lipoprotein-C (VLDL-C) fractions, as well as VLDL1–2-C and VLDL3–5-C subfractions), to a lesser extent, the total anti-atherogenic high-density lipoprotein C (HDL-C) fraction, as well as HDL2-C and HDL3-C subfractions. Additionally, we demonstrated an increase in the serum chitotriosidase activity, without significant changes in serum matrix metalloprotease (MMP) activity. Morphological changes observed in P-407-treated mice included atherosclerosis in the heart and storage syndrome in the liver macrophages. P-407 significantly increased the activity of cysteine, aspartate proteases, and MMPs in the heart, and only the activity of cathepsin B and MMPs in the liver of mice. Thus, repeated administration of P-407 to mice induced atherosclerosis secondary to sustained dyslipidemia and formation of foamy macrophages in liver, and also modulated the activity of heart and liver proteases.


1993 ◽  
Vol 39 (10) ◽  
pp. 2125-2129 ◽  
Author(s):  
G Eggertsen ◽  
R Tegelman ◽  
S Ericsson ◽  
B Angelin ◽  
L Berglund

Abstract We analyzed blood samples from 407 healthy Swedish individuals, 244 men and 163 women, ages 17 to 86 years, for apolipoprotein (apo) E isoforms and serum triglycerides, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and total cholesterol. Parallel genotyping by means of polymerase chain reaction (PCR)-amplified DNA was performed in 200 subjects. Identical results were obtained by genotyping and phenotyping in 95% of all subjects analyzed. The apo E allelic frequencies were 7.8% for epsilon 2, 71.9% for epsilon 3, and 20.3% for epsilon 4. Compared with other Caucasian populations, the present population had a high relative allelic frequency of epsilon 4. The epsilon 4 frequency decreased with increasing age and was significantly lower in individuals > 60 years of age (14.7%). When controlling for age and sex, there were strong correlations between total serum and LDL cholesterol and the various epsilon alleles. The epsilon 4 and epsilon 3 alleles correlated positively with serum cholesterol and the epsilon 4 allele correlated positively with LDL cholesterol. In contrast, HDL cholesterol and serum triglycerides did not show any correlation to the allele types. Thus, the results demonstrate a considerable age variation of the epsilon allele frequency among healthy Swedes and an influence of apo E alleles on serum and LDL cholesterol concentrations.


2011 ◽  
Vol 18 (01) ◽  
pp. 142-146
Author(s):  
MUHAMMAD ANWAR BURIRO ◽  
MUHAMMAD TAYYAB ◽  
ALLAH DITTA

The increased level of LDL-c in the serum has a high risk and the increased serum HDL-c level has a low risk for the development of atherosclerosis. The effect of Nigella Sativa on levels of cholesterol fractions were determined in this study on rats. Methods: 24 albino rats of 08 weeks age having equal number of males and females were kept at optimum atmospheric condition. The blood samples were taken at the start and different control and experimental diets were given for 24 weeks. The experimental diets were added with Nigella Sativa as 30 mg/kg body weight. The blood samples were taken at the end of study. The blood samples drawn at the start and end of the study were estimated for serum cholesterol. The results of control and experimental groups were compared. Results: Total serum cholesterol in the control group showed increase from 8.3±3.30 to 13.96±9.3 at 24 weeks. The serum HDL cholesterol showed increase from 44.4±6.12 to 80.45±5.95 level at 24 weeks. The serum LDL cholesterol showed increase from 8.3±3.30 to 13.96±9.3 at 24 weeks. The total serum cholesterol in experimental group was increased from 76.9±6.5 to 117.5± 6.65 at 24 weeks. The serum HDL cholesterol levels was increased from 41.7±4.9 to 83.42±5.92 at 24 weeks as compared with control group. The LDL cholesterol levels were decreased from 12.7±6.9 to 8.5±7.8 at 24 weeks. Conclusions: This study shows significant decrease in serum low density lipoprotein cholesterol level, and increase in serum high density lipoprotein cholesterol levels.


2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Alejandra del Pilar Reyes-de la Rosa ◽  
Gustavo Varela-Fascinetto ◽  
Constanza García-Delgado ◽  
Edgar Ricardo Vázquez-Martínez ◽  
Pedro Valencia-Mayoral ◽  
...  

Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features. Most cases are caused by JAG1 gene mutations. We report the case of a 2-year-old Mexican mestizo patient with Alagille syndrome, having exhibited jaundice and cholestatic syndrome as of three weeks of age. Sequencing analysis of the JAG1 gene revealed the novel heterozygous mutation c.91dupG that originates a truncated protein and therefore a possibly diminished activation of the Notch signaling pathway. The latter may explain the severe phenotype of the patient. Since the mutation was not identified in the parents, it was considered a de novo event, highlighting the importance of molecular diagnosis and genetic counseling. In conclusion, this report widens the spectrum of JAG1 gene mutations associated with Alagille syndrome.


2011 ◽  
Vol 24 (1) ◽  
pp. 161-172 ◽  
Author(s):  
Clarice Cardozo da Costa Prediger ◽  
Maria Teresa Anselmo Olinto ◽  
Luís Carlos Nácul ◽  
Denize Rigetto Ziegler ◽  
Marcos Pascoal Pattussi

This study evaluated the effects of soy protein containing isoflavones on the lipid profile of women. A meta-analysis including 13 eligible randomized controlled trials was carried out. The literature was systematically searched for randomized controlled trials on the effects of soy protein containing isoflavones on the serum lipids of adult women. The main searched databases were PubMed, Cochrane Library, MedLine, Lilacs and Web of Science. Randomized controlled trials were included if they met the following criteria: published from 1966 to 2005, the study population consisted of women only, had either a crossover or a parallel design and the amounts of soy protein and isoflavones consumed were provided. Weighted mean effect sizes were calculated for net changes in serum lipid concentrations using fixed-effects and random-effects models. Prespecified subgroup analyses were performed to explore the influence of covariates on net lipid change. Soy protein with isoflavones was associated with a significant decrease in total serum cholesterol (by 5.34mg/dL, or 2.4%, p=0.03). No significant associations were detected for low density lipoprotein-cholesterol, triacylglycerols and high density lipoprotein-cholesterol. Amounts of soy protein greater than 40g decreased total cholesterol by 6.56mg/dL (95% CI: -12.35 to -0.39, p=0.04). Soy protein supplementation had small statistically significant effects on the total serum cholesterol of women, but they were clinically insignificant. Furthermore, there were no statistically significant effects on serum low density lipoprotein-cholesterol, high density lipoprotein-cholesterol or triglycerides.


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