A further case of renal tubular dysgenesis surviving the neonatal period.
Renal tubular dysgenesis is a critical disorder characterized by the Potter phenotype and severe hypotension in the early neonatal period. We herein report a 3-year-old female with renal tubular dysgenesis. Endocrinological studies showed a high plasma renin activity (over 49.2 ng/ml/h; normal range 2.0-15.2), high active renin concentration (1,823.5 pg/ml; normal range 2.4-21.9), and low angiotensin-converting enzyme (ACE) concentration (1.7 U/l; normal range 8.3-21.4). Taken together, these findings suggested an abnormality of the ACE gene, ACE. Direct sequencing analysis revealed two novel deletions in the coding region of ACE. We conclude that hormonal analysis of the renin-angiotensin system can aid in identifying the responsible genes and help with efficient gene analysis and pathophysiological considerations.
Uematsu
Mitsugu
M
Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. uematsu@bk9.so-net.ne.jp
Sakamoto
Osamu
O
Ohura
Toshihiro
T
Shimizu
Nobuhiko
N
Satomura
Kenichi
K
Tsuchiya
Shigeru
S
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001002:Anuria / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy; D001706:Biopsy; D002675:Child, Preschool; D002872:Chromosome Deletion; D003062:Codon / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007668:Kidney / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D007687:Kidney Tubules, Proximal / Q000002:abnormalities* / Q000473:pathology; D016104:Oligohydramnios / Q000209:etiology; D016366:Open Reading Frames / Q000235:genetics; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010530:Peritoneal Dialysis; D011247:Pregnancy; D012083:Renin / Q000097:blood; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D003062:Codon; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A; D012083:Renin