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1.
Arch. argent. pediatr ; 120(3): e123-e127, junio 2022. tab, ilus
Article Dans Espagnol | LILACS, BINACIS | ID: biblio-1368455

Résumé

El síndrome de quilomicronemia familiar (SQF) es unaenfermedad autosómica recesiva rara, con una prevalencia1:200 000 - 1:1 000 000, y se caracteriza por quilomicronemiaen ayunas y niveles muy elevados de triglicéridos (> 880 mg/dl). LPL es el gen más frecuentemente afectado, luego APOC2,GPIHBP1, APOA5 y LMF1; todos ellos comprometen la función de la lipoproteinlipasa endotelial. El SQF suele presentarseen la infancia con dolor abdominal recurrente, xantomaseruptivos, retraso del crecimiento, pancreatitis y, en ocasiones,asintomático. El tratamiento convencional es la restriccióndietética de grasas. Se muestra el resultado clínico de 20 pacientes pediátricoscon SQF reclutados de 4 hospitales en Argentina.


Familial chylomicronemia syndrome (FCS) is a rare autosomalrecessive disease, prevalence 1:200,000 - 1:1,000,000, andis characterized by fasting chylomicrons and very hightriglycerides > 880 mg/dl. LPL is the most frequentlyaffected gene, then APOC2, GPIHBP1, APOA5, LMF1, all ofthem compromising the function of lipoproteinlipase. FCScommonly presents in childhood with recurrent abdominalpain, eruptive xanthomas, failure to thrive, pancreatitis, andsometimes asymptomatic. The conventional treatment isdietetic fat restriction. The clinical outcome of 20 pediatric patients with FCS recruited from 4 hospitals in Argentina is reported.


Sujets)
Humains , Nourrisson , Enfant d'âge préscolaire , Enfant , Pancréatite/diagnostic , Pancréatite/étiologie , Pancréatite/thérapie , Hypertriglycéridémie/génétique , Hyperlipoprotéinémie de type I/diagnostic , Hyperlipoprotéinémie de type I/génétique , Hyperlipoprotéinémie de type I/thérapie
2.
Rev. bras. ginecol. obstet ; 43(3): 220-224, Mar. 2021. graf
Article Dans Anglais | LILACS | ID: biblio-1251307

Résumé

Abstract Acute pancreatitis is a rare condition in pregnancy, associated with a high mortality rate. Hypertriglyceridemia represents its second most common cause.We present the case of a 38-year-old woman in the 24th week of gestation with a history of hypertriglyceridemia and recurrent episodes of pancreatitis. She was admitted to our hospital with acute pancreatitis due to severe hypertriglyceridemia. She was stabilized and treated with fibrates. Despite her favorable clinical course, she developed a second episode of acute pancreatitis complicated by multi-organ dysfunction and pancreatic necrosis, requiring a necrosectomy. The pregnancy was ended by cesarean section, after which three plasmapheresis sessions were performed. She is currently asymptomatic with stable triglyceride levels. Acute pancreatitis due to hypertriglyceridemia represents a diagnostic and therapeutic challenge in pregnant women, associated with serious maternal and fetal complications. When primary hypertriglyceridemia is suspected, such as familial chylomicronemia syndrome, the most important objective is preventing the onset of pancreatitis.


Sujets)
Humains , Femelle , Grossesse , Adulte , Complications de la grossesse/diagnostic , Diagnostic prénatal , Pancréatite aigüe nécrotique/diagnostic , Hyperlipoprotéinémie de type I/diagnostic , Complications de la grossesse/imagerie diagnostique , Indice APACHE , Pancréatite aigüe nécrotique/complications , Pancréatite aigüe nécrotique/imagerie diagnostique , Diagnostic différentiel , Hyperlipoprotéinémie de type I/complications , Hyperlipoprotéinémie de type I/imagerie diagnostique
3.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2008; 18 (10): 655-656
Dans Anglais | IMEMR | ID: emr-102911

Résumé

Familial Chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial Chylomicronemia in a 9-month-old infant, who was diagnosed after his plasma was incidentally found to be milky. Lipid profile showed familial Chylomicronemia [Type 1 Hyperlipidemia]. The infant was started on a low fat diet and advised a regular follow-up


Sujets)
Humains , Mâle , Hyperlipoprotéinémie de type I/diétothérapie , Lipoprotéines/métabolisme , Xanthomatose , Pancréatite , Chylomicron , Triglycéride , Hyperlipoprotéinémie de type I/diagnostic
4.
Indian J Pediatr ; 2005 Feb; 72(2): 181
Article Dans Anglais | IMSEAR | ID: sea-82581

Résumé

Familial chylomicronemia syndrome is a group of rare genetic disorders characterized by deficient activity of an enzyme lipoprotein lipase or apo-protein C-II deficiency. Incidence is 1 out of 1,000,000. Alternative names to this syndrome are Type I hyper lipoproteinemia and familial lipoprotein lipase deficiency.


Sujets)
Chylomicron/sang , Femelle , Humains , Hyperlipidémies/diagnostic , Hyperlipoprotéinémie de type I/diagnostic , Nourrisson
6.
Rev. chil. pediatr ; 58(6): 481-4, nov.-dic. 1987. tab, ilus
Article Dans Espagnol | LILACS | ID: lil-48002

Résumé

Se presenta el caso clínico de una paciente portadora de una hiperlipoproteinemia tipo I controlada durante 5 años. Se describe las características clínicas y de laboratorio de esta enfermedad así como la respuesta al tratamiento dietético que es fundamental en la evolución de esta alteración metabólica tan poco frecuente


Sujets)
Nourrisson , Humains , Femelle , Hyperlipoprotéinémie de type I/diagnostic , Hyperlipoprotéinémie de type I/diétothérapie
7.
Arq. bras. oftalmol ; 48(5): 156-9, 1985. ilus
Article Dans Portugais | LILACS | ID: lil-27985

Résumé

Relata-se o caso de proteinose lipóide (doença de Urbach-Wiethe) no qual a única manifestaçäo clínica, possivelmente inicial, foi a presença de numerosos nódulos translucentes dispostos ao nível dos bordos palpebrais em ambos os olhos. Comentam-se os aspectos clínicos e histopatológicos desta rara genodermatose


Sujets)
Adulte , Humains , Femelle , Hyperlipoprotéinémie de type I/diagnostic , Diagnostic différentiel
8.
Indian J Pediatr ; 1984 Mar-Apr; 51(409): 243-5
Article Dans Anglais | IMSEAR | ID: sea-81201
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