Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis

Indian Pediatrics

Volumn 44, Issue 4, 2007, Pages 301-303

  Krishnamurthy, Sriram ^a   Kapoor, Seema ^a,b   Yadav, Sangeeta ^a  

^a LOK NAYAK HOSPITAL   (India)

^b MAULANA AZAD MEDICAL COLLEGE   (India)

Author keywords

Kallmann syndrome; Nephrotic syndrome; Steroid sulfatase gene; X linked ichthyosis

Indexed keywords

CHOLESTEROL SULFATE; ENALAPRIL; PREDNISOLONE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; STERYL SULFATASE; TRANSGLUTAMINASE 1; UNCLASSIFIED DRUG;

ANAMNESIS; ANASARCA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA DETERMINATION; GENE DELETION; HUMAN; HYPERTENSION; ICHTHYOSIS; KALLMANN SYNDROME; MALE; NEPHROTIC SYNDROME; SCHOOL CHILD; SOLITARY KIDNEY;

CHILD; GENE DELETION; HUMANS; ICHTHYOSIS, X-LINKED; KALLMANN SYNDROME; KIDNEY; MALE; NEPHROTIC SYNDROME; STERYL-SULFATASE;

EID: 34247548444     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Hernandez-Martin A, Gonzalez-Sarmiento R, De Unamuno P. X-linked ichthyosis: An update. Br J Dermatol1999; 141 : 617-627.
2. Paige DG, Emilion GG, Bouloux PM, Harper JI. A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects. Br J Dermatol 1994; 131: 622-629.
3. Kirk JM, Grant DB, Besser GM, Shalet S, Quinton R, Smith CS et al. Unilateral renal aplasia in X-linked Kallmann Syndrome. Clin Genet 1974; 46: 260-262.
4. Martul P, Pineda J, Levilliers J, Varquez JA, Rodriguez SJ, Loridan L, et al. Hypogonado-trophic hypogonadism with hyposmia, X-linked ichthyosis and renal malformation syndrome. Clin Endocrinol 1995; 42: 121-128.
5. Rapaport R. Hypofunction of the testes. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson's Textbook of Pediatrics, 14th edn. Philadelphia: Saunders; 2004; pp. 1925-1930.
6. Mc Grae JD. Keratitis, ichthyosis and deafness (KID) syndrome with adult onset of keratitis component. Int J Dermatol 1990; 29: 145-146.
7. Matsukura H, Fuchizawa T, Ohtsuki A, Higashiyama H, Higuchi O, Higuchi A, et al. End stage renal failure in a child with X- linked ichthyosis. Pediatr Nephrol 2003; 18: 297-300.
8. Nemes Z, Demeny M, Marekov LN, Fesus L, Steinert PM. Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine. J Biol Chem 2000; 275: 2636-2646.
9. Hiiragi T, Sasaki H, Nagafuchi A, Sabe H, Shen SC, Matsuki M, et al. Transglutaminase type 1 and its cross-linking activity are concentrated at adherens junction in simple epithelial cells. J Biol Chem 1999; 274: 34148-34154.
10. Reiser J, Kriz W, Kretzler M, Mundel P. The glomerular slit diaphragm is a modified adherens junction. J Am Soc Nephol 2000; 11: 1-8.