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Article

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

American journal of medical genetics. Part A - 1 Nov 2006

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 17036344
DOI: 10.1002/ajmg.a.31448

Genes

AGT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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