Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8-year-old phenotypic female with campomelic dysplasia (CD) and 46,XY sex-reversal presented with renal colic. Medullary nephrocalcinosis, urolithiasis, and renal malrotation were diagnosed by computed tomographic scanning. Pelvic sonogram identified an enlarged left gonad. Genetic testing revealed a novel SOX9 heterozygous deletion of a cytosine at nucleotide 972 (972delC), causing a frameshift at codon 200, introducing a stop codon 18 codons further downstream (P200fsX218). At laparoscopic gonadectomy, a left dysgerminoma was removed. This first reported case of dysgerminoma in a sex-reversed patient with CD who also had urolithiasis stresses the importance of prophylactic gonadectomy and urologic evaluations in this susceptible population.
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PMID:A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. 1923 56

A 7-month-old, 4.3-kg, spayed female bichon frise was referred for evaluation of chronic urinary incontinence. Abdominal radiographs revealed calculi within the right kidney and ureter. An ultrasound revealed a small right kidney. An abdominal computed tomography scan with contrast revealed that the left ureter was extramurally ectopic, inserting into the proximal urethra. A right intramural ectopic ureter was identified during cystotomy. Ureteronephrectomy was performed on the right, and ureteroneocystostomy was performed on the left. A telephone conversation with the owner 4 months after surgery revealed that the dog exhibited no evidence of urine dribbling, and urinary continence was maintained well on phenyl-propanolamine (1.75 mg/kg orally q 12 hours). This is the first report of successful surgical management of bilateral ureteral ectopia with concurrent, unilateral, renal dysplasia and urolithiasis.
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PMID:Bilateral ureteral ectopia with renal dysplasia and urolithiasis in a dog. 2043 46


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