A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations

American Journal of Medical Genetics, Part A

Volumn 140, Issue 21, 2006, Pages 2355-2360

  Uematsu, Mitsugu ^a   Sakamoto, Osamu ^a   Nishio, Toshiyuki ^a   Ohura, Toshihiro ^a   Matsuda, Tadashi ^a   Inagaki, Tetsuji ^b   Abe, Takaaki ^a   Okamura, Kunihiro ^a   Kondo, Yoshiaki ^a   Tsuchiya, Shigeru ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b MIYAGI CHILDREN S HOSPITAL   (Japan)

Author keywords

AGT; Angiotensinogen; Fresh frozen plasma; Renal tubular dysgenesis

Indexed keywords

ANGIOTENSINOGEN; FRESH FROZEN PLASMA; RENIN;

ARTICLE; BLOOD PRESSURE REGULATION; CASE REPORT; DRUG INFUSION; EPITHELIUM CELL; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; KIDNEY MALFORMATION; KIDNEY PROXIMAL TUBULE; MICTURITION; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERITONEAL DIALYSIS; PLASMA RENIN ACTIVITY; POTTER SYNDROME; PRIORITY JOURNAL; RENAL TUBULAR DYSGENESIS; RENIN SUBSTRATE; SURVIVAL; TREATMENT OUTCOME;

ANGIOTENSINOGEN; BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY TUBULES, PROXIMAL; MUTATION; SEQUENCE DELETION;

EID: 33750592551     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31448     Document Type: Article

References (17)

1. Allanson JE, Pantzar JT, MacLeod PM. 1983. Possible new autosomal recessive syndrome with unusual renal histopathological change. Am J Med Genet 16:57-60.
2. Chen Y, Lasaitiene D, Friberg P. 2004. The renin-angiotensin system in kidney development. Acte Physiol Scand 181:529-535.
3. Ding Y, Stec DE, Sigmund CD. 2001. Genetic evidence that lethality in angiotensinogen-deficient mice is due to loss of systemic but not renal angiotensinogen. J Biol Chem 276:7431-7436.
4. Gociman B, Rohrwasser A, Lantelme P, Cheng T, Hunter G, Monson S, Hunter J, Hillias E, Lott P, Ishigami T, Lalouel JM. 2004. Expression of angiotensinogen in proximal tubule as a function of glomerular filtration rate. Kidney Int 65:2153-2160.
5. Gomez RA, Norling LL, Wilfong N, Isakson P, Lynch KR, Hock R, Quesenberry P. 1993. Leukocytes synthesize angiotensinogen. Hypertension 21:470-475.
6. Gribouval O, Gonzales M, Neuhaus T, Aziza J. Bieth E, Laurent N, Bouton JM, Feuillet F, Manki S, Amar HB, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollangnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. 2005. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet 37:964-968.
7. Itoh H, Mukoyama M, Pratt RE, Gibbons GH, Dzau VJ. 1993. Multiple autocrine growth factors modulate vascular smooth muscle cell growth response to angiotensin II. J Clin Invest 91:2268-2274.
8. Kumar D, Moss G, Primhak R, Coombs R. 1997. Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors. J Med Genet 34:541-545.
9. Lambot MA, Vermeylen D, Noel JC. 2001. Angiotensin-II receptor inhibitors in pregnancy. Lancet 357:1619-1620.
10. Lynch KR, Peach MJ. 1991. Molecular biology of angiotensinogen. Hypertension 17:263-269.
11. MacMahon P, Blackie RA, House MJ, Risdon RA, Crawfurd MD. 1990. A further family with congenital renal proximal tubular dysgenesis. J Med Genet 27:395-398.
12. McFadden DE, Pantzar JT, Allen MIV, Langlois S. 1997. Renal tubular dysgenesis with calvarial hypoplasia: Report of two additional cases and review. J Med Genet 34:846-848.
13. Niimura F, Labosky PA, Kakuchi J, Okubo S, Yoshida H, Oikawa T, Ichiki T, Naftilan AJ, Fogo A, Inagami T, Hogan BLM, Ichikawa I. 1995. Gene targeting in mice reveals a requirement for angiotensin in the development and maintenance of kidney morphology and growth factor regulation. J Clin Invest 96:2947-2954.
14. Shirakawa T, Kondoh T, Takahashi R, Nakayama M, Kusumoto T, Matsudaira M, Nakashima Y, Kinoshita E, Miyamoto M, Masuzaki H, Uetani M, Nazneen A, Taguchi T, Moriuchi H. 2004. Renal tubular dysgenesis complicated with severe cranuim hypoplasia. Pediatr Int 46:88-90.
15. Swinford AE, Bernstein J, Toriello HV, Higgins JV. 1989. Renal tubular dysgenesis: Delayed onset of oligohydramnios. Am J Med Genet 32:127-132.
16. Tanimoto K, Sugiyama F, Goto Y, Ishida J, Takimoto E, Yagami K, Fukamizu A, Murakami K. 1994. Angiotensinogen-deficient mice with hypotension. J Biol Chem 269:31334-31337.
17. Wilkinson MF. 2005. A new function for nonsense-mediated mRNA-decay factors. Trends Genet 21:143-148.