Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency - X-linked recessive ichthyosis: A case report and review of literature

European Journal of Pediatrics

Volumn 171, Issue 5, 2012, Pages 847-850

  Mishra, Kirtisudha ^a   Batra, Vineeta Vijay ^b   Basu, Srikanta ^a   Rath, Bimbadhar ^a   Saxena, Renu ^c  

^a KALAWATI SARAN CHILDREN'S HOSPITAL   (India)

^b G B PANT HOSPITAL   (India)

^c SIR GANGA RAM HOSPITAL   (India)

Author keywords

Nephrotic syndrome; Steroid sulfatase; X linked ichthyosis

Indexed keywords

ALBUMIN; CHOLESTEROL; CREATININE; CYCLOSPORIN; ENALAPRIL; GENOMIC DNA; PREDNISOLONE;

ALBUMIN BLOOD LEVEL; ANASARCA; ARTICLE; BLOOD PRESSURE MEASUREMENT; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; CREATININE BLOOD LEVEL; GENERALIZED EDEMA; GENETIC ANALYSIS; HUMAN; KIDNEY BIOPSY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NEPHROTIC SYNDROME; PALLOR; PERIORBITAL EDEMA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; PRURITUS; SKIN DEFECT; UREA BLOOD LEVEL; X LINKED ICHTHYOSIS;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ICHTHYOSIS, X-LINKED; KIDNEY; MALE; NEPHROTIC SYNDROME; PEDIGREE;

EID: 84860301284     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1712-x     Document Type: Article

References (18)

1. Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M et al (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 86:10001-5 (Pubitemid 20030762)
2. Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT (1990) Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet 84(6):571-3 (Pubitemid 20158821)
3. Bruno L, Bocanegra O, Magnelli N (2003) Recessive X-linked ichthyosis associated with hypertrophic pyloric stenosis: a chance occurrence? Clin Exp Dermatol 28(1):74-6 (Pubitemid 36197569)
4. Eddy AA, Symons JM (2003) Nephrotic syndrome in childhood. Lancet 23; 362(9384):629-639 (Pubitemid 37013306)
5. Gohlke BC, Haug K, Fukami M, Friedl W, Noeker M, Rappold GA, Haverkamp F (2000) Interstitial deletion in Xp22.3 is associated with X-linked ichthyosis, mental retardation, and epilepsy. J Med Genet 37:600-602 (Pubitemid 30604098)
6. Hazan C, Orlow SJ, Schaffer JV (2005) X-linked recessive ichthyosis. Dermatol Online J 30;11(4):12
7. Hernández-Martín A, González-Sarmiento R, De Unamuno P (1999) X-linked ichthyosis: an update. Br J Dermatol 141(4):617-27 (Pubitemid 29512813)
8. Hiiragi T, Sasaki H, Nagafuchi A, Sabe H, Shen SC, Matsuki M, Yamanishi K, Tsukita S (1999) Transglutaminase type 1 and its cross-linking activity are concentrated at adherens junctions in simple epithelial cells. J Biol Chem 274:34148-34154 (Pubitemid 129511752)
9. Krishnamurthy S, Kapoor S, Yadav S (2007) Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis. Indian Pediatr 44(4):301-3 (Pubitemid 46663600)
10. Matsukura H, Fuchizawa T, Ohtsuki A, Higashiyama H, Higuchi O, Higuchi A, Miyawaki T (2003) End-stage renal failure in a child with X-linked ichthyosis. Pediatr Nephrol 18(3):297-300 (Pubitemid 36790060)
11. Maya-Núñez G, Cuevas-Covarrubias S, Zenteno JC, Ulloa- Aguirre A, Kofman-Alfaro S, Méndez JP (1998) Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. Clin Endocrinol (Oxf) 48(6):713-8 (Pubitemid 28289239)
12. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 11;16(3):1215
13. Mohandas TK, Shapiro LJ, Sparkes R, Sparkes MC (1979) Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a non-inactivated region on the short arm of the human X chromosome. Proc Natl Acad Sci USA 76:5779-83 (Pubitemid 10168688)
14. Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P (1992) Chromosomal localization of a pseudoautosomal growth gene. J Med Genet 29(9):624-8
15. Paige DG, Emilion GG, Bouloux PM, Harper JI (1994) A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects. Br J Dermatol 131:622-29 (Pubitemid 24344045)
16. Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV (2005) Steroid sulfatase: molecular biology, regulation, and inhibition. Endocr Rev 26(2):171-202
17. Reiser J, Kriz W, Kretzler M, Mundel P (2000) The glomerular slit diaphragm is a modified adherens junction. J Am Soc Nephrol 11:1-8 (Pubitemid 30020420)
18. Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Müller CR, Ropers HH (1980) Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp22.3. Hum Genet 54(2):205-6 (Pubitemid 10111816)