Renal tubular dysgenesis with hypocalvaria and ileocecal valve agenesis: an autopsy report
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چکیده
منابع مشابه
Renal tubular dysgenesis and reversible hypocalvaria after intrauterine exposure to an angiotensin receptor blocker
Renal tubular dysgenesis and reversible hypocalvaria after intrauterine exposure to an angiotensin receptor blocker Sir, We report an infant with renal tubular dysgenesis (RTD) and hypocalvaria after intrauterine exposure to an angio-tensin receptor blocker (ARB), in whom RTD is irreversible but hypocalvaria reversible. A female infant was delivered at a gestational age of 35 weeks and 4 days, ...
متن کاملRenal tubular dysgenesis with calvarial hypoplasia:
We report two cases of renal tubular dysgenesis (RTD) with calvarial hypoplasia and review the originally reported cases ofRTD that came from our institution and published reports regarding the association of RTD and skull abnormalities. Although previously reported in association with RTD, calvarial hypoplasia is probably under-recognised. The cases reported here support the idea that the skul...
متن کاملRenal tubular dysgenesis-a case presentation.
Renal tubular dysgenesis (RTD) is a lethal, developmental anomaly of the fetal kidney characterized by a defect in differentiation of the proximal and distal convoluted tubules. It is usually associated with oligohydramnios in later pregnancy and Potter's syndrome. A neonate with typical features who presented with mild respiratory distress, dysmorphic appearance and anuria is described. At the...
متن کاملImpaired Proteostasis Contributes to Renal Tubular Dysgenesis
Protein conformational disorders are associated with the appearance, persistence, accumulation, and misprocessing of aberrant proteins in the cell. The etiology of renal tubular dysgenesis (RTD) is linked to mutations in the angiotensin-converting enzyme (ACE). Here, we report the identification of a novel ACE mutation (Q1069R) in an RTD patient. ACE Q1069R is found sequestered in the endoplasm...
متن کاملRenal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.
We report two cases of renal tubular dysgenesis (RTD) with calvarial hypoplasia and review the originally reported cases of RTD that came from our institution and published reports regarding the association of RTD and skull abnormalities. Although previously reported in association with RTD, calvarial hypoplasia is probably under-recognised. The cases reported here support the idea that the sku...
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ژورنال
عنوان ژورنال: Autopsy and Case Reports
سال: 2012
ISSN: 2236-1960
DOI: 10.4322/acr.2012.031