A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations.
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.
Uematsu
Mitsugu
M
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan. uematsu@bk9.so-net.ne.jp
Sakamoto
Osamu
O
Nishio
Toshiyuki
T
Ohura
Toshihiro
T
Matsuda
Tadashi
T
Inagaki
Tetsuji
T
Abe
Takaaki
T
Okamura
Kunihiro
K
Kondo
Yoshiaki
Y
Tsuchiya
Shigeru
S
D000808:Angiotensinogen / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007687:Kidney Tubules, Proximal / Q000002:abnormalities*; D009154:Mutation; D017384:Sequence Deletion
D018389:Codon, Nonsense; D017931:DNA Primers; D000808:Angiotensinogen