منابع مشابه
Renal 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:
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 in Israel: pathologist's experience and literature review.
BACKGROUND Renal tubular dysgenesis is a rare lethal kidney abnormality clinically manifested by olighydramnios, anuria and respiratory distress. Most of the information on this entity is provided by case reports and short series. OBJECTIVES To evaluate the incidence and comparative frequency of clinical manifestations in different etiologic-pathogenic variants of RTD in Israel and in summari...
متن کاملA further family with congenital renal proximal tubular dysgenesis.
A new syndrome of oligohydramnios, Potter's syndrome, and anuric renal failure leading to stillbirth or neonatal death from respiratory failure has recently been described. Histologically, there is renal tubular dysgenesis, especially of the proximal tubules, and apparent glomerular crowding. To date, five families have been reported, in four of which there have been affected sibs and in two pa...
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ژورنال
عنوان ژورنال: Pediatric Nephrology
سال: 1998
ISSN: 0931-041X,1432-198X
DOI: 10.1007/s004670050476