Familial LCAT deficiency in a child with nephrotic syndrome

Jurat S. Rajpal, James MapelLentz, Alejandra Decanini Mancera, Robyn C. Reed, Youngki Kim, Blanche M. Chavers

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Background: Lecitin cholesterol acyltransferase (LCAT) deficiency comprises a group of rare disorders related to HDL metabolism. These disorders are characterized by ophthalmologic, hematologic, and renal findings. Case diagnosis/treatment: A 15-year-old female who presented with nephrotic syndrome and hypertension was diagnosed with LCAT deficiency by renal biopsy and LCAT enzyme activity. Her edema and hypertension improved with diuretic and antihypertensive therapies. Continued care of her LCAT deficiency is ongoing. Conclusion: Although rare, LCAT deficiency should be in the differential diagnosis of nephrotic syndrome in the setting of abnormally low HDL cholesterol levels.

Original languageEnglish (US)
Pages (from-to)211-214
Number of pages4
JournalClinical Nephrology
Volume82
Issue number3
DOIs
StatePublished - Sep 2014

Keywords

  • Fish-eye disease
  • High-density lipoprotein
  • Lecitin cholesterol acyltransferase deficiency
  • Nephrotic syndrome

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    Rajpal, J. S., MapelLentz, J., Mancera, A. D., Reed, R. C., Kim, Y., & Chavers, B. M. (2014). Familial LCAT deficiency in a child with nephrotic syndrome. Clinical Nephrology, 82(3), 211-214. https://doi.org/10.5414/CN107928