Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb.

Merve  Yoldas Celik; Havva Yazıcı; Fehime Erdem; Ebru Canda; Banu Sarsik Kumbaraci; Ipek Kaplan Bulut; Sema Kalkan Ucar; Süleyman Caner Kabasakal; Mahmut Çoker

doi:10.51271/jpea-2022-192

Authors

Merve Yoldas Celik Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Türkiye https://orcid.org/0000-0003-0015-9807
Havva Yazıcı Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Türkiye https://orcid.org/0000-0002-2564-7420
Fehime Erdem Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Türkiye https://orcid.org/0000-0002-5597-9290
Ebru Canda Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Türkiye https://orcid.org/0000-0002-9175-1998
Banu Sarsik Kumbaraci Ege University Faculty of Medicine, Department of Pathology, Izmir, Türkiye https://orcid.org/0000-0003-4775-3942
Ipek Kaplan Bulut Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nephrology, Izmir, Türkiye https://orcid.org/0000-0001-5430-3136
Sema Kalkan Ucar Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Türkiye https://orcid.org/0000-0001-9574-7841
Süleyman Caner Kabasakal Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nephrology, Izmir, Türkiye https://orcid.org/0000-0001-8745-7238
Mahmut Çoker Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Türkiye https://orcid.org/0000-0002-6308-6804

DOI:

https://doi.org/10.51271/jpea-2022-192

Keywords:

nephrotic syndrome

Abstract

Introduction: Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome.

Case Report: A 4 year-old-patient was diagnosed with GSD IXb at 13 months of age with mildly elevated transaminases and hepatomegaly. During the follow-up period, there was no hypoglycemia. Development and growth were normal. In the last month, the onset of generalized edema was reported. Urinalysis showed a high protein level. He had low serum albumin, high serum triglycerides cholesterol. Complement levels were normal. The patient was diagnosed as minimal change disease with a renal biopsy. He was treated with oral prednisone.

Discussion: Minimal Change Disease is the most common cause of idiopathic nephrotic syndrome cases in children and the first step for therapy is the usage of corticosteroids. This is the first report of nephrotic syndrome associated with GSD IXb disease.