Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Enzyme
Compound
Query: UMLS:C0451641 (
urolithiasis
)
3,973
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Bardet-Biedl syndrome is an autosomal recessive disorder with obesity, polydactly,
retinitis pigmentosa
, hypogenitalism, intellectual impairment and varying degree of renal abnormalities. Fewer than ten cases of paediatric renal transplantation for BBS have been reported in literature so far. This is the only case report of BBS transplant
urolithiasis
which was dealt with percutaneous nephrolithotomy and has been stone free for seven years. This is a complex case with a rare genetic disorder, renal transplant, renal stone, ileal conduit, long loop and inversely placed kidney. This case exemplifies the need for multidisciplinary management of complex cases and emphasises PCNL as the safe method.
...
PMID:Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature. 1982 57
