A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature.

Tastemel Ozturk, Tugba; Canpolat, NUR; Saygili, SEHA; Bayrakci, Umut; Soylemezoglu, Oguz; Ozaltin, Fatih; Topaloglu, Rezan

doi:10.1007/s00467-022-05656-5

A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature.

Tastemel Ozturk T., Canpolat N., Saygili S. K., Bayrakci U. S., Soylemezoglu O., Ozaltin F., ...Daha Fazla

Pediatric nephrology (Berlin, Germany), cilt.38, sa.3, ss.711-719, 2023 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 38 Sayı: 3
Basım Tarihi: 2023
Doi Numarası: 10.1007/s00467-022-05656-5
Dergi Adı: Pediatric nephrology (Berlin, Germany)
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
Sayfa Sayıları: ss.711-719
Anahtar Kelimeler: Sphingosine-1-phosphate lyase, SGPL1, Nephrotic syndrome, Sphingolipidosis, Adrenal insufficiency, SPHINGOSINE 1-PHOSPHATE, ADRENAL INSUFFICIENCY, MUTATIONS
İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Background Recently, recessive mutations in SGPL1 (sphingosine-1-phosphate lyase), which encodes the final enzyme of sphingolipid metabolism, have been reported to cause steroid-resistant nephrotic syndrome, adrenal insufficiency, and many other organ/system involvements. We aimed to determine the clinical and genetic characteristics, and outcomes in patients with SGPL1 mutations.