Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb.
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...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2022-12-01
|
| Series: | The Journal of Pediatric Academy |
| Subjects: | |
| Online Access: | https://jpediatricacademy.com/index.php/jpa/article/view/192 |
| _version_ | 1827888739666362368 |
|---|---|
| author | Merve Yoldas Celik Havva Yazıcı Fehime Erdem Ebru Canda Banu Sarsik Kumbaraci Ipek Kaplan Bulut Sema Kalkan Ucar Süleyman Caner Kabasakal Mahmut Çoker |
| author_facet | Merve Yoldas Celik Havva Yazıcı Fehime Erdem Ebru Canda Banu Sarsik Kumbaraci Ipek Kaplan Bulut Sema Kalkan Ucar Süleyman Caner Kabasakal Mahmut Çoker |
| author_sort | Merve Yoldas Celik |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T20:38:06Z |
| format | Article |
| id | doaj.art-5656f136d71444228bb4d66f5f98fbb2 |
| institution | Directory Open Access Journal |
| issn | 2718-0875 |
| language | English |
| last_indexed | 2024-03-12T20:38:06Z |
| publishDate | 2022-12-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | The Journal of Pediatric Academy |
| spelling | doaj.art-5656f136d71444228bb4d66f5f98fbb22023-08-01T11:23:11ZengGalenos Publishing HouseThe Journal of Pediatric Academy2718-08752022-12-013313213410.51271/jpea-2022-192142Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb.Merve Yoldas Celik0https://orcid.org/0000-0003-0015-9807Havva Yazıcı1https://orcid.org/0000-0002-2564-7420Fehime Erdem2https://orcid.org/0000-0002-5597-9290Ebru Canda3https://orcid.org/0000-0002-9175-1998Banu Sarsik Kumbaraci4https://orcid.org/0000-0003-4775-3942Ipek Kaplan Bulut5https://orcid.org/0000-0001-5430-3136Sema Kalkan Ucar6https://orcid.org/0000-0001-9574-7841Süleyman Caner Kabasakal7https://orcid.org/0000-0001-8745-7238Mahmut Çoker8https://orcid.org/0000-0002-6308-6804Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, TürkiyeEge University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, TürkiyeEge University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, TürkiyeEge University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, TürkiyeEge University Faculty of Medicine, Department of Pathology, Izmir, TürkiyeEge University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nephrology, Izmir, TürkiyeEge University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, TürkiyeEge University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nephrology, Izmir, TürkiyeEge University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, TürkiyeIntroduction: 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.https://jpediatricacademy.com/index.php/jpa/article/view/192nephrotic syndrome |
| spellingShingle | Merve Yoldas Celik Havva Yazıcı Fehime Erdem Ebru Canda Banu Sarsik Kumbaraci Ipek Kaplan Bulut Sema Kalkan Ucar Süleyman Caner Kabasakal Mahmut Çoker Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. The Journal of Pediatric Academy nephrotic syndrome |
| title | Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. |
| title_full | Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. |
| title_fullStr | Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. |
| title_full_unstemmed | Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. |
| title_short | Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. |
| title_sort | nephrotic syndrome in a patient with glycogen storage disease type ixb |
| topic | nephrotic syndrome |
| url | https://jpediatricacademy.com/index.php/jpa/article/view/192 |
| work_keys_str_mv | AT merveyoldascelik nephroticsyndromeinapatientwithglycogenstoragediseasetypeixb AT havvayazıcı nephroticsyndromeinapatientwithglycogenstoragediseasetypeixb AT fehimeerdem nephroticsyndromeinapatientwithglycogenstoragediseasetypeixb AT ebrucanda nephroticsyndromeinapatientwithglycogenstoragediseasetypeixb AT banusarsikkumbaraci nephroticsyndromeinapatientwithglycogenstoragediseasetypeixb AT ipekkaplanbulut nephroticsyndromeinapatientwithglycogenstoragediseasetypeixb AT semakalkanucar nephroticsyndromeinapatientwithglycogenstoragediseasetypeixb AT suleymancanerkabasakal nephroticsyndromeinapatientwithglycogenstoragediseasetypeixb AT mahmutcoker nephroticsyndromeinapatientwithglycogenstoragediseasetypeixb |