Abstract
Schimke immunoosseous dysplasia is a rare autosomal recessive multisystemic disorder, caused by mutations in swi/snf-related matrix associated actyin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL 1) characterized by spondyloepiphyseal dysplasia, growth retardation, defective cellular immunity, steroid resistant nephrotic syndrome with progressive renal insufficiency and specific phenotype. Schimke immunoosseous dysplasia have a high incidence of thyroid dysfunction and atherosclerotic disease with cerebral ischemia. Patients affected by this syndrome are marked by a severe growth deficit caused by osseous dysplasia. We describe a boy with characteristic symptoms of Schimke immunoosseous dysplasia who presented with nephrotic syndrome, growth retardation, specific phenotype and renal biopsy findings.
Keywords
Schimke syndrome steroid resistant nephrotic syndrome focal segmental glomerulosclerosis cerebral infarct spondyloepiphyseal dysplasia
References
- Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, Gil J, da Fonseca N. Schimke immuno- osseous dysplasia: case report and review of 25 patients. J Med Genet 1999;36:786-9. M, Michałkiewicz J, Kowalska A, Rokicki D.Schimke immuno-osseous dysplasia: two cases. Pediatr Radiol 2003;33:216-8.
- Boerkoel CF, O'Neill S,André JL , et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000;159:1-7.
- Rodrigo F, Ferrer-Cañabate J, Gracia S, et al. Clinical quiz. Schimke immunoosseous dysplasia syndrome (SIOD). Pediatr Nephrol 2001;16:606-8.
- DhillonAS, Chapman S, Milford DV. Cerebellar defect associated with Schimke immuno-osseous dysplasia. Eur J Pediatr 2001;160:372-4.
- Ozdemir N, Alpay H, Bereket A, et al. Membranous nephropathy in Schimke immuno-osseous dysplasia. Pediatr Nephrol 2006;21:870-2.
- Lücke T, Marwedel KM, Kanzelmeyer NK, et al. Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. Pediatr Nephrol 2004;19:672-5.
- Hunter KB, Lücke T, Spranger J et all. Schimke immunoosseous dysplasia: defining skeletal features. Eur J Pediatr. 2010;169:801-11.
- Clewing JM, Fryssira H, Goodman D, et al. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat 2007;28:273-83.
- Sigurdardottir S, Myers SM, Woodworth JM, Raymond GV. Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. Am J Med Genet 2000;90:294-8.
- Zivicnjak M, Franke D, Zenker M, et al. SMARCAL1 mutations: a cause of prepubertal idiopathic steroid- resistant nephrotic syndrome. Pediatr Res 2009;65:564-8.
- Clewing JM, Antalfy BC, Lücke T, et al. Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet 2007;44:122-30.
- Tylki-Szymańska A, Pyrkosz A, Krajewska-Walasek YAZIŞMAADRESİ Telefon E-Posta
- :igirisgen78@hotmail.com Geliş Tarihi Kabul Tarihi :23.09.2010
Abstract
Schimke immunoosseoz displazi otozomal resesif geçişli, nadir görülen kromatin remodeling protein(SMARCAL 1) deki mutasyonun yol açtığı spondiloepifizyal displazi, disproporsiyone büyüme geriliği, böbrekyetmezliğine ilerleyen steroide yanıtsız sıklıkla fokal segmental glomerüloskleroz ile uyumlu nefrotik sendrom,hücresel immün yetmezlikle tekrarlayan enfeksiyonlar ve tipik fenotipik özellikleri ile karakterize multisistemikbir sendromdur. Ek olarak tiroid disfonksiyonu, serebral iskemi, ateroskleroz olup, mental gelişimin geneldenormal olması sendromun özelliğidir. Schimke sendromlu hastalarda genellikle kemik displazisine bağlı şiddetlibüyüme geriliği görülür. Bu yazıda nefrotik sendrom kliniği ile başvuran, büyüme geriliği, tekrarlayanenfeksiyonları, tipik fenotipik özellikleri ve böbrek biyopsi bulguları ile Schimke Sendromu tanısı alan bir olgu sunulmuştur
Keywords
Schimke sendromu steroid dirençli nefrotik sendrom fokal segmental glomeruloskleroz serebral infarkt spondiloepifizyal displazi.
References
- Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, Gil J, da Fonseca N. Schimke immuno- osseous dysplasia: case report and review of 25 patients. J Med Genet 1999;36:786-9. M, Michałkiewicz J, Kowalska A, Rokicki D.Schimke immuno-osseous dysplasia: two cases. Pediatr Radiol 2003;33:216-8.
- Boerkoel CF, O'Neill S,André JL , et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000;159:1-7.
- Rodrigo F, Ferrer-Cañabate J, Gracia S, et al. Clinical quiz. Schimke immunoosseous dysplasia syndrome (SIOD). Pediatr Nephrol 2001;16:606-8.
- DhillonAS, Chapman S, Milford DV. Cerebellar defect associated with Schimke immuno-osseous dysplasia. Eur J Pediatr 2001;160:372-4.
- Ozdemir N, Alpay H, Bereket A, et al. Membranous nephropathy in Schimke immuno-osseous dysplasia. Pediatr Nephrol 2006;21:870-2.
- Lücke T, Marwedel KM, Kanzelmeyer NK, et al. Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. Pediatr Nephrol 2004;19:672-5.
- Hunter KB, Lücke T, Spranger J et all. Schimke immunoosseous dysplasia: defining skeletal features. Eur J Pediatr. 2010;169:801-11.
- Clewing JM, Fryssira H, Goodman D, et al. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat 2007;28:273-83.
- Sigurdardottir S, Myers SM, Woodworth JM, Raymond GV. Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. Am J Med Genet 2000;90:294-8.
- Zivicnjak M, Franke D, Zenker M, et al. SMARCAL1 mutations: a cause of prepubertal idiopathic steroid- resistant nephrotic syndrome. Pediatr Res 2009;65:564-8.
- Clewing JM, Antalfy BC, Lücke T, et al. Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet 2007;44:122-30.
- Tylki-Szymańska A, Pyrkosz A, Krajewska-Walasek YAZIŞMAADRESİ Telefon E-Posta
- :igirisgen78@hotmail.com Geliş Tarihi Kabul Tarihi :23.09.2010
Details
| Other ID | JA53ZF96UC |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | April 1, 2011 |
| Published in Issue | Year 2011 Volume: 12 Issue: 1 |