Familial LCAT deficiency in a child with nephrotic syndrome.

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.

• Authors: Jurat S Rajpal, James Mapel-Lentz, Alejandra Decanini Mancera, Robyn C Reed, Youngki Kim, Blanche M Chavers
• Journal: Clinical nephrology (Clin Nephrol) Vol. 82 Issue 3 Pg. 211-4 (Sep 2014) ISSN: 0301-0430 [Print] Germany
• PMID: 23391322 (Publication Type: Case Reports, Journal Article)

Chemical References

• Antihypertensive Agents
• Diuretics
• Lipids

Topics

• Adolescent
• Antihypertensive Agents (therapeutic use)
• Biopsy
• Diuretics (therapeutic use)
• Edema (etiology)
• Female
• Humans
• Hypertension (etiology)
• Kidney (pathology)
• Lecithin Cholesterol Acyltransferase Deficiency (blood, complications, diagnosis, therapy)
• Lipids (blood)
• Nephrotic Syndrome (blood, diagnosis, etiology, therapy)