Anzeige
Erschienen in:
12.03.2018 | Clinical Quiz
Nephrotic syndrome associated with severe hypertriglyceridemia in a pediatric patient: Answers
Erschienen in: Pediatric Nephrology | Ausgabe 11/2018
Einloggen, um Zugang zu erhaltenExcerpt
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.