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Published in: Pediatric Nephrology 11/2018

01-11-2018 | Clinical Quiz

Nephrotic syndrome associated with severe hypertriglyceridemia in a pediatric patient: Answers

Authors: Beatriz Corredor-Andrés, María Teresa Muñoz-Calvo, Olga Calero, Cristina Aparicio, Jesús Argente, Miguel Calero

Published in: Pediatric Nephrology | Issue 11/2018

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Excerpt

1.
Hyperlipidemia is a characteristic feature of nephrotic syndrome (NS) with elevation of serum cholesterol and triglycerides (TG) [1]. However, due to the exceptionally high levels of serum TG (more than 2000 mg/dl), we further investigated potential underlying pathologies (diabetes, obesity, hypothyroidism), consumption of certain drugs (high-dose estrogens, beta-blockers, thiazide diuretics, high-dose corticosteroids, isotretinoin, bexarotene, tamoxifen, antipsychotics, and antiretroviral medications, among others), alcohol intake, liver dysfunction, and autoimmune illness, as well as genetic conditions (familial combined hyperlipidemia, familial hypertriglyceridemia, familial dysbetalipoproteinemia, and more rare deficiencies, such as lipoprotein lipase (LPL) deficiency, apoC-2 deficiency, familial apoA-5 deficiency, familial GPI-HBP1 deficiency, and LMF1 deficiency) [2]. The patient was not under any treatment; she was previously healthy, and her glucose and thyroid hormones were within the normal range [3, 4].
 
2.
Under the suspicion of an underlying genetic cause, which in combination with NS produced substantially elevated levels of TG, we studied the serum levels of several apolipoproteins: apolipoprotein A (ApoA) 96.2 mg/dl (95–180), ApoB 195 mg/dl (35–100), and Apolipoprotein E (ApoE) 84 mg/l (< 94). Additionally, we performed a serum lipid profile in her relatives. We observed slightly elevated levels of TG in the mother and grandmother, with TG levels of 262 and 181 mg/dl, respectively. Upon suspicion of a familial dysbetalipoproteinemia, the APOE gene was studied in the patient and her relatives.
 
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Metadata
Title
Nephrotic syndrome associated with severe hypertriglyceridemia in a pediatric patient: Answers
Authors
Beatriz Corredor-Andrés
María Teresa Muñoz-Calvo
Olga Calero
Cristina Aparicio
Jesús Argente
Miguel Calero
Publication date
01-11-2018
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 11/2018
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-018-3919-1

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