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

TAŞTEMEL ÖZTÜRK T., CANPOLAT N., SAYGILI S. K., BAYRAKCİ U. S., Soylemezoglu O., ÖZALTIN F., ...Daha Fazla

PEDIATRIC NEPHROLOGY, cilt.38, sa.3, ss.711-719, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 38 Sayı: 3
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1007/s00467-022-05656-5
  • Dergi Adı: PEDIATRIC NEPHROLOGY
  • 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 Adresli: Hayır

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.