More than tubular dysfunction: cystinosis and kidney outcomes

Atmis, BAHRİYE; K Bayazit, AYSUN; Cevizli, Derya; Kor, DENİZ; Fidan, Hatice; Bisgin, ATIL; Kilavuz, Sebile; Unal, İLKER; Erdogan, KIVILCIM; Melek, Engin; Gonlusen, Gulfiliz; Anarat, Ali; Onenli Mungan, Neslihan

doi:10.1007/s40620-021-01078-y

More than tubular dysfunction: cystinosis and kidney outcomes

Atmis B., K Bayazit A., Cevizli D., Kor D., Fidan H. B., Bisgin A., ...Daha Fazla

JOURNAL OF NEPHROLOGY, cilt.35, sa.3, ss.831-840, 2022 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 35 Sayı: 3
Basım Tarihi: 2022
Doi Numarası: 10.1007/s40620-021-01078-y
Dergi Adı: JOURNAL OF NEPHROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
Sayfa Sayıları: ss.831-840
Anahtar Kelimeler: Children, Cystinosis, Kidney outcomes, Glomerulonephritis, NEPHROPATHIC CYSTINOSIS, CTNS MUTATIONS, LUPUS, PROTEINURIA, DIAGNOSIS, DISEASE
Çukurova Üniversitesi Adresli: Evet

Özet

Background Cystinosis is a lysosomal storage disease that affects many tissues. Its prognosis depends predominantly on kidney involvement. Cystinosis has three clinical forms: nephropathic infantile, nephropathic juvenile and non-nephropathic adult. Proximal tubular dysfunction is prominent in the infantile form, whereas a combination of glomerular and tubular alterations are observed in the juvenile form.