ESPE Abstracts (2019) 92 P3-15

Nephrotic Syndrome Developed in a Girl With Lipoid Adrenal Hyperplasia due to StAR Gene Mutation – First Report

Kyung Mi Jang1, Yong Hoon Park1, Woo Yeong Chung2, Changwon Keum3


1Yeungnam University hospital, Daegu, Korea, Republic of. 2Inje University Hospital, Busan, Korea, Republic of. 3Rare genetic disease research center, 3 billion, Seoul, Korea, Republic of


Introduction: The incidence of idiopathic nephrotic syndrome (NS) is 1.5~16.9 per 100,000 children. The cause remains unknown but the pathogenesis of idiopathic NS is thought to involve immune dysregulation, systemic circulating factors, or inherited structural abnormalities of the podocyte. NS is characterized by the triad of proteinuria, hypoalbuminemia, and edema. There can be an antecedent infection, typically of the upper respiratory tract. Moreover, NS can be accompanied with several complications such as infection, thromboembolism and hypovolemic crisis. Here, we report a nephrotic syndrome with hypotension occurring in 10 years old girl with primary adrenal insufficiency

Case: A 10-years old girl was admitted in intensive care unit with generalized edema and mental change. She was the first baby (birth weight, 3.0kg, full term) of non-consanguineous parents. She had been diagnosed and taking medications (hydrocortisone, fludrocortisone) with primary adrenal insufficiency. She got fever 2 days before admission, and revealed generalized edema and mental change on the day of admission. She was diagnosed with idiopathic nephrotic syndrome two years ago.

The patient had a decreased blood pressure of 90/40 mmHg and tachycardia. The laboratory investigation results upon admission were as follows: leukocyte count, 10,770/µL; platelet count, 341K/ µL; hemoglobin level, 12.7 g/dL; sodium 129 mg/dL, potassium 5.3 mg/dL; BUN level, 18.0 mg/dL; serum creatinine level, 0.8 mg/dL; total protein 3.7 mg/dL; and serum albumin 1.59 mg/dL. Urinalysis showed protein (++++) by dipstick and nephrotic-range proteinuria (247.5 mg/m2/h)

The patient was diagnosed with idiopathic nephrotic syndrome, and adrenal crisis. She was initially treated with high dose intravenous hydrocortisone (100mg a day) due to adrenal crisis. Her hypotension and mental change were recovered on the second day of hospitalization, and then, the treatment was changed intravenous hydrocortisone into oral prednisolone. Remission of proteinuria was achieved after 8 days. To this day, the patient has been followed up for 10 months with remission

Conclusion: It is difficult to know whether two diseases have occurred accidentally or not. It was thought although both NS and adrenal crisis could contribute to hypotension and mental change of the patient, adrenal crisis mainly affected her condition at first. We first report an idiopathic nephrotic syndrome presenting hypotension and mental change, needed with high dose intravenous hydrocortisone developed in patient with lipoid adrenal hyperplasia.

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