CHILD WITH FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE

a 2019

CHILD WITH FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE

KYSELÁK, Ondřej a Vladimír SOŠKA

Základní údaje

Originální název

CHILD WITH FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE

Autoři

KYSELÁK, Ondřej a Vladimír SOŠKA

Vydání

2019

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.atherosclerosis.2019.06.670

UT WoS

000482110800668

Změněno: 11. 2. 2021 11:17, Mgr. Tereza Miškechová

Anotace

V originále

Background and Aims: In patients with familial hypercholesterolemia (FH) is typical biochemical finding highly elevated LDL-C and normal or slightly increased triglycerides (TG). Combined hyperlipidemia is usually found in secondary dyslipidemias associated with hypothyroidism, diabetes or nephrotic syndrome. Methods: Case report: 12-years-old boy with serious hypercholesterolemia was sent to our specialized centre with suspicion of FH (laboratory results 6/2017: Cholesterol 14.5 mmol/l, LDL-C 9.4 mmol/l, TG 2.84 mmol/l). We have excluded hypothyroidism and diabetes, negative urine analysis was reported by a paediatrician. Patient (an athlete with a high physical load) was without any clinical symptoms. DNA analysis did not confirm mutation in genes for apo B-100, LDLR and PCSK9. Further analysis did not confirm neither autosomal recessive hypercholesterolemia (ARH) nor sitosterolemia and the parents of the child had normal cholesterol level. Therefore we repeated complete biochemical analysis and significant proteinuria was found out. Thereafter nephrotic syndrome was confirmed (etiology: Focal Segmental Glomerulosclerosis, FSGS), although the patient had no oedema. Patient is now under the care of specialists in nephrology and pediatric lipidology. Results: We have proved the hypercholesterolemia with FH phenotype associated with nephrotic syndrome in a 12-years-old asymptomatic boy. Conclusions: Biochemical examination of urine should be a part of diagnostic process in every patient with dyslipidemia. Presence of proteinuria is typical sign of nephrotic syndrome which is associated with severe hypercholesterolemia and increased risk of cardiovascular events.

Citovat

KYSELÁK, Ondřej a Vladimír SOŠKA. CHILD WITH FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE. 2019. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2019.06.670.

@proceedings{1740584,
   author = {Kyselák, Ondřej and Soška, Vladimír},
   doi = {http://dx.doi.org/10.1016/j.atherosclerosis.2019.06.670},
   language = {eng},
   title = {CHILD WITH FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE},
   url = {https://www.sciencedirect.com/science/article/pii/S002191501931127X?via%3Dihub},
   year = {2019}
}

TY  - CONF
ID  - 1740584
AU  - Kyselák, Ondřej - Soška, Vladimír
PY  - 2019
TI  - CHILD WITH FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE
UR  - https://www.sciencedirect.com/science/article/pii/S002191501931127X?via%3Dihub
N2  - Background and Aims: In patients with familial hypercholesterolemia (FH) is typical biochemical finding highly elevated LDL-C and normal or slightly increased triglycerides (TG). Combined hyperlipidemia is usually found in secondary dyslipidemias associated with hypothyroidism, diabetes or nephrotic syndrome. Methods: Case report: 12-years-old boy with serious hypercholesterolemia was sent to our specialized centre with suspicion of FH (laboratory results 6/2017: Cholesterol 14.5 mmol/l, LDL-C 9.4 mmol/l, TG 2.84 mmol/l). We have excluded hypothyroidism and diabetes, negative urine analysis was reported by a paediatrician. Patient (an athlete with a high physical load) was without any clinical symptoms. DNA analysis did not confirm mutation in genes for apo B-100, LDLR and PCSK9. Further analysis did not confirm neither autosomal recessive hypercholesterolemia (ARH) nor sitosterolemia and the parents of the child had normal cholesterol level. Therefore we repeated complete biochemical analysis and significant proteinuria was found out. Thereafter nephrotic syndrome was confirmed (etiology: Focal Segmental Glomerulosclerosis, FSGS), although the patient had no oedema. Patient is now under the care of specialists in nephrology and pediatric lipidology. Results: We have proved the hypercholesterolemia with FH phenotype associated with nephrotic syndrome in a 12-years-old asymptomatic boy. Conclusions: Biochemical examination of urine should be a part of diagnostic process in every patient with dyslipidemia. Presence of proteinuria is typical sign of nephrotic syndrome which is associated with severe hypercholesterolemia and increased risk of cardiovascular events.
ER  -

KYSELÁK, Ondřej a Vladimír SOŠKA. \textit{CHILD WITH FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE}. 2019. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2019.06.670.

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