کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5615140 | 1405964 | 2017 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy
ترجمه فارسی عنوان
هیپرتروگلیسریدمی شدید، پوسیدگیپناترمی و پوسیدو آیدیدوز در نوزاد مبتلا به کمبود لیپوپروتئین لیپاز با توجه به اختلال دوقطبی
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
کاردیولوژی و پزشکی قلب و عروق
چکیده انگلیسی
Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have “Pepto-Bismol like” blood when repeating a newborn screening. The initial plasma triglyceride level was 24,318Â mg/dL. The laboratory tests revealed serum bicarbonate level of <5Â mmol/L, sodium of 127Â mmol/L, and severe anemia. There were no signs of acute distress. The point of care capillary blood testing, however, demonstrated normal serum pH (7.2), bicarbonate (25.4Â mmol/L), and sodium (139Â mmol/L). The patient had mild elevation of serum lactic acid and no ketonuria. A diagnosis of type I hyperlipoproteinemia was made. Oral feeding was stopped, and the infant received intravenous fluids for the next 7Â days resulting in lowering of serum triglyceride levels to 1016Â mg/dL. Oral feeding was initiated with an amino acid-rich formula to which medium chain triglycerides were slowly added, while maintaining the total fat content to <15% of total daily energy. Sequencing of the LPL gene revealed a homozygous c.644G>A, p.(Gly215Glu) mutation. Subsequent analysis of the parental samples revealed that only the father, but not the mother, was a heterozygous carrier of the same mutation. Analysis of 18 informative microsatellite markers on chromosome 8 revealed paternal segmental uniparental disomy with partial absence of the maternal chromosome 8p, confirmed by single-nucleotide polymorphism microarray. We conclude that besides pseudohyponatremia, extreme hypertriglyceridemia can rarely present as pseudoacidosis and uniparental disomy can be an underlying mechanism for autosomal recessive diseases such as LPL deficiency.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Clinical Lipidology - Volume 11, Issue 3, MayâJune 2017, Pages 757-762
Journal: Journal of Clinical Lipidology - Volume 11, Issue 3, MayâJune 2017, Pages 757-762
نویسندگان
Ambika P. MBBS, MD, Anna C.E. MD, MS, Abhimanyu MD,