A further family with congenital renal proximal tubular dysgenesis.
نویسندگان
چکیده
منابع مشابه
A 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...
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...
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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 کاملA congenital renal tubular defect.
Waring, Kajdi and Tappan (1945) described six cases of severe polyuria and polydipsia which showed no response to pitressin therapy. The onset was after birth and the main features were erratic fever, constipation, vomiting and hyper-electrolytaemia without acidosis. The urine was constantly of low specific gravity, and in spite of high fluid intakes it was difficult to maintain hydration. Pitr...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1990
ISSN: 1468-6244
DOI: 10.1136/jmg.27.6.395