نتایج جستجو برای: hereditary renal agenesis
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HLRCC: hereditary leiomyomatosis and renal cell cancer INTRODUCTION Hereditary leiomyomatosis and renal cell cancer (HLRCC) (formerly known as Reed syndrome, multiple cutaneous and uterine leiomyomatosis, leiomyomatosis cutis et uteri, and multiple leiomyomatosis) is an autosomal dominant syndrome comprising cutaneous leiomyomas, uterine leiomyomas, or renal tumors. The cutaneous leiomyomas of ...
Late presentation of symptomatic hydrometrocolpos is uncommon. We present a 5 years old continent girl with prenatally diagnosed multicystic dysplastic left kidney and late-onset lower abdominal pain. Investigations revealed nonfunctioning an ectopic ureter draining into the hemivagina, vaginal duplication obstructed urine-filled hemivagina. Surgical therapy included resection septum laparoscop...
abstract pseudoxanthoma elasticum is a rare, hereditary, multisystemic disease affecting the skin, eye, and cardiovascular system. renal involvement is uncommon. we describe two cases of pseudoxanthoma elasticum (pxe) in two women with distinctive skin lesions and nephrocalcinosis that renal ultrasonography showed a characteristic pattern of dotted increased echogenicity in the corticomedullary...
This case report defines a case of isolated oligodontia of 9 and 10 permanent teeth in 9-year-old monozygotic twin sisters and gives information about the possible genetic and environmental etiology, related dental anomalies and treatment options. The twins have a negative family history of hypodontia and oligodontia in their parents, as well as their paternal and maternal grandmothers and firs...
Unilateral renal agenesis with vesicoureteral reflux in the ipsilateral full length ureter is a rare phenomenon. Herein we report a case of 10-year old boy who presented with recurrent urinary tract infections. No renal tissue was identified on left side in various imaging studies. Micturating cystourethrogram (MCUG) showed left sided refluxing and blind ending ureter. Left ureterectomy was don...
Few cases of unilateral renal agenesis associated with ipsilateral seminal vesicle ectasia or cyst have been reported. Two cases of unilateral renal aplastic dysplasia and ipsilateral ectopic ureter opening in the ejaculatory ducts associated with infertility secondary to bilateral obstruction of the seminal via are reported. Clinical and physical assessment including transrectal ultrasound and...
This report describes the renal pathology in three siblings with hereditary nephritis. All three cases showed combined features of chronic glomerulonephritis, pyelonephritis, and interstitial nephritis. Foam cells were seen in only one case. These findings support the contention of Krickstein, Gloor, and Balogh (1966) that the renal changes in hereditary nephritis are those of a mixed nephritis.
BACKGROUND The RET/GDNF signalling pathway plays a crucial role during development of the kidneys and the enteric nervous system. In humans, RET activating mutations cause multiple endocrine neoplasia, whereas inactivating mutations are responsible for Hirschsprung disease. RET mutations have also been reported in fetuses with renal agenesis, based on analysis of a small series of samples. OB...
Although renal agenesis and dysgenesis are relatively common and significant birth defects, no animal model to date has been utilized to adequately study these developmental pathologies. Blockage of the migration of the mesonephric duct in Day 2 chick embryos results in unilateral renal agenesis (URA) on the operated side, thus providing a model of chronic renal insufficiency. Embryos with URA ...
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