Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0152169 (renal colic)
 811 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. Herein, we report a case of HDR syndrome associated with nephrocalcinosis and distal renal tubular acidosis. A 34-year-old woman was admitted to investigate recurrent stone formation and bilateral nephrocalcinosis. As a 3-year-old child, she had been diagnosed with HDR syndrome without chromosome evaluation. She had spontaneous stone passages on several occasions. On laboratory examination, serum calcium and intact parathyroid hormone at lower levels. Urinary citrate excretion was extremely low at 51.6 mg/day. On an ammonium chloride loading test, complete distal renal tubular acidosis was proved. To prevent the nephrocalcinosis from deteriorating, she was given potassium-sodium citrate. Since administration, she has not experienced spontaneous stone passage or renal colic. Nephrocalcinosis and recurrent urolithiasis will strongly affect renal prognosis in this case and we consider that citrate medication is an effective therapy in avoiding progress of her nephrocalcinosis.
 ...
PMID:Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis. 1751 29

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.
 ...
PMID:A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. 1923 56