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

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

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)

Abstract

Renal tubular dysgenesis (RTD) is a developmental abnormality of the renal proximal tubules found in patients with Potter syndrome. We report a female newborn with RTD who has survived for more than 18 months. Infusions of fresh frozen plasma (FFP) in the early neonatal period were effective in raising and maintaining her blood pressure. Peritoneal dialysis was required until the appearance of spontaneous urination at 29 days after birth. Histopathological examinations of the kidney revealed dilated renal tubular lumina and foamy columnar epithelial cells in the renal tubules. Endocrinological studies showed a discrepancy between low plasma renin activity (<0.1 ng/ml/hr) and high active renin concentration (135,000 pg/ml), suggesting an aberration in the renin substrate, angiotensinogen. Direct sequencing analysis revealed two novel mutations in the coding region of the angiotensinogen gene (AGT): a nonsense mutation in exon 2 (c.604C > T) and a frameshift deletion at nucleotide 1290 in exon 5 (c.1290delT). The mutations were in the compound heterozygous state, because each parent had each mutation. These findings suggest that angiotensinogen deficiency is one of the causes of RTD. A treatment of the condition with FFP may help to promote long survival.

Original languageEnglish
Pages (from-to)2355-2360
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number21
DOIs
Publication statusPublished - 2006 Nov 1

Keywords

  • AGT
  • Angiotensinogen
  • Fresh frozen plasma
  • Renal tubular dysgenesis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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