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A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations
Author(s) -
Uematsu Mitsugu,
Sakamoto Osamu,
Nishio Toshiyuki,
Ohura Toshihiro,
Matsuda Tadashi,
Inagaki Tetsuji,
Abe Takaaki,
Okamura Kunihiro,
Kondo Yoshiaki,
Tsuchiya Shigeru
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31448
Subject(s) - frameshift mutation , medicine , endocrinology , kidney , nonsense mutation , exon , mutation , compound heterozygosity , biology , microbiology and biotechnology , gene , missense mutation , genetics
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. © 2006 Wiley‐Liss, Inc.