L

 

Lowe sendromu (oculocerebrorenal sendrom)

Kalıtsal -XLR

Gelişme geriliği

Alın geniş

Saçlar seyrek

Deride adneks kistleri

Mikroftalmi

Megalokornea

Endoftalmi

Konjenital katarakt

Glokom

Büyük kulak kepçeleri

Çenelerde odontogen kistler

Dentin displazisi

Böbrek tubulus hücrelerinde defektler

Proksimal renal tubular transport disfonksiyonu (Fanconi tipi)

Proteinüri ve hiperfosfatüri

Renal yetmezlik

Hiperkalsüri (nefrokalsinoz and nefrolityazis)

Osteomalacia

Patolojik kırıklar

Kifoz

Skolyoz

İnfantil konjenital hipotoni

Eklemler gevşek

Reflekslerde azalma

Zeka geriliği

Epileptiform ataklar

Davranış bozuklukları

 

  • Gropman A, Levin S, Yao L, et al. Unusual renal features of Lowe syndrome in a mildly affected boy. American Journal of Medical Genetics, 95:461–466, 2000

  • McSpadden K. Living with Lowe Syndrome: A Guide for Families, Friends and Professionals. 3 ed. Lowe Syndrome Association, Inc, 2000

  • Nussbaum RL, Suchy SF. The oculocerebrorenal syndrome of Lowe (Lowe syndrome). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed. Chap 252, pp. 6257-6266, McGraw-Hill; New York-NY, 2001

  • Nandedkar MA, Minus H, Nandedkar MA. Eruptive vellus hair cysts in a patient with Lowe syndrome. Pediatric Dermatology, 21:54–57, 2004 

  • Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatric Nephrology, 31(12):2201-2212, 2016