Browse > Article

A Case of Neurofibromatosis Combined with Ectopic Kidney  

Yang, Eu Gene (Department of Pediatrics, Handicapped Children's Institute, Yonsei University, College of Medicine)
Kim, Bo Hyun (Department of Pediatrics, Handicapped Children's Institute, Yonsei University, College of Medicine)
Lee, Joon Soo (Department of Pediatrics, Handicapped Children's Institute, Yonsei University, College of Medicine)
Publication Information
Clinical and Experimental Pediatrics / v.48, no.4, 2005 , pp. 448-452 More about this Journal
Abstract
Neurofibromatosis(NF) is an autosomal dominant disorder, probably of neural crest origin that affects all three germinal layers. It is a group of heterogeneous multisystemic neurocutaneous disorders involving both neuroectodermal and mesenchymal derivatives. Type 1(von Recklinghausen disease) is the most common neurocutaneous disorder among the eight subtypes. Previous reports showed various involvements in the renal organ. Renovascular hypertension is the most common major manifestation of renal involvement in this disease. However, we experienced a case of ectopic kidney concurrent with neurofibromatosis type 1. The diagnosis of neurofibromatosis had been made by typical skin manifestation on physical examination, and ectopic kidney was discovered accidentally during routine abdominal sonography. The etiological basis of this association is not clear. We report a rare case of coexisting neurofibromatosis and ectopic kidney in a 7-year-old girl with a brief review.
Keywords
Neurofibromatosis; Ectopic kidney;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Wolkenstein P, Zeller J. Clinical diagnosis of neurofibromatosis type 1. Presse Med 1999;28:2174-80
2 Littler M, Morton NE. Segregation analysis of peripheral neurofibromatosis(NF1). J Med Genet 1990;27:307-10   DOI   PUBMED
3 Rubenstein AE, Mytilineoau C, Yahr MD, Revoltella RP. Neurological aspects of neurofibromatosis. Adv Neurol 1981;29:11-21
4 Chanin L, Sterling KC, Suzanne BC. Congenital and inherited disease. In : T. Martin B, Ellis DA, William EH, editors. Pediatric Nephrology. 4th ed. Pennsylvania : Wolters Kluwer Co, 1999:442-4
5 Richardson RR, Noronha A, Lettsma J, Siqueira EB. Multiple neoplastic associations with central and peripheral von Recklinghausen's disease. South Med J 1980;73:1074-7   DOI   ScienceOn
6 Suarez S, de Jesus Y. Acquired intrathoracic kidney. P R Health Sci J 1998;17:289-91
7 Debella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000;105:608-14   DOI   PUBMED   ScienceOn
8 Konishi K, Nakamura M, Yamakawa H, Suzuki H, Saruta T, Hanaoka H, et al. Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis. Am J Med Sci 1991; 301:322-8   DOI   ScienceOn
9 Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278:51-7   DOI   ScienceOn
10 Clementi M, Barbujani G, Turolla L, Tenconi R. Neurofibromatosis-1 : a maximum likelihood estimation of mutation rate. Hum Genet 1990;84:116-8
11 Rauber G, Schmitt J, Parache R. The unilateral small kidney in Recklinghausen's neurofibromatosis. Strasb Med 1962;13:937-44
12 Kokubo T, Hiki Y, Horii A, Kobayashi Y. Reckinghausen's neurofibromatosis associated with membraneous nephropathy. Nephron 1993;65:486   DOI   ScienceOn
13 Huson SM. Recent development in the diagnosis and management of neurofibromatosis. Arch Dis Child 1989;64:745-9   DOI   PUBMED   ScienceOn
14 Chen MH, Chen KS, Hou JW, Lee CC, Huang JS. Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis. Report of a family. Am J Nephrol 2002; 22:376-80   DOI   ScienceOn
15 Bruneton JN, Sabatier JC, Drouillard J, Elie G, Dallochio M, Tavernier J. Arterial hypertension and horseshoe kidney during von Recklinghausen's disease. Angiographic study and review of the literature. J Radiol Electrol Med Nucl 1978;59:149-53
16 Khan GA, Melman A, Bank N. Renal involvement in neurocutaneous syndromes. J Am Soc Nephrol 1995;5:1411-7
17 Ghazali A, Arnold M, Norman B. Renal involvement in neurocutaneous syndromes. J Am Soc Nephro 1995;5:7
18 Lee JW, Jung HC, Lee SB, Kwak IS, Rha HY. A case of neurofibromatosis type 1 associated with minimal change disease. Korean J Nephrol 2002;21:1011-4
19 Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, et al. A major segment of the neurofibromatosis type 1 gene : cDNA sequence, genomic structure, and point mutations. Cell 1990;62:193-201   DOI   ScienceOn
20 Haslam RHA. The nervous system. In : Nelson, Behrman RE, Kliegman RM, ed. Nelson's Textbook of Pediatrics. 14th ed. Philadelphia : WB Saunders Co, 1992:1509-12
21 Demierre MF, Gerstein W. Segmental neurofibromatosis with ipsilateral renal agenesis. Int J Dermatol 1996;35:445-7   DOI   ScienceOn