Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease
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DOI: 10.1007/s00467-020-04524-4
Abstract: Background Bi-allelic loss of function variations in genes encoding proteins of the renin-angiotensin system ( AGT , ACE , REN , AGTR1 ) are associated with autosomal recessive renal tubular dysgenesis, a severe disease characterized… read more here.
Keywords: tubular dysgenesis; disease; renin angiotensin; renal tubular ... See more keywords
Growth Restriction, Osteopenia, Placental Massive Perivillous Fibrin Deposition With (or Without) Intervillous Histiocytes and Renal Tubular Dysgenesis—An Emerging Complex
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DOI: 10.1177/1093526617697061
Abstract: We describe a case of a pregnancy complicated by early onset asymmetric growth restriction with anhydramnios with termination occurring at 21 weeks. Fetal autopsy showed demineralization of bones and renal tubular dysgenesis. Placental pathology showed… read more here.
Keywords: growth restriction; massive perivillous; perivillous fibrin; tubular dysgenesis ... See more keywords
Late Preterm Infant With Postnatal Diagnosis of Renal Tubular Dysgenesis
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DOI: 10.1177/23247096221111775
Abstract: A male infant born at 34 weeks’ gestation presented with acute cardiorespiratory decompensation soon after birth followed by renal failure. Initial clinical course was complicated by ventilator requirement, bilateral pneumothoraces, and hypotension managed with multiple… read more here.
Keywords: late preterm; renal failure; renal tubular; diagnosis renal ... See more keywords