Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0029713 (
immaturity
)
4,335
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Cranioectodermal dysplasia
(
CED
) is a rare autosomal recessive disease with characteristic craniofacial, skeletal, and ectodermal-derived tissue abnormalities. In this disease, tubulointerstitial nephropathy (TIN) has been reported as one of the life-threatening combinations. Here we report a sporadic case of
CED
showing signs of renal failure during the perinatal period. Renal biopsy at the age of 6 months revealed TIN consisting of marked interstitial fibrosis with inflammatory cell infiltration accompanied by scattered tubular atrophy. Glomeruli were often sclerosed and others showed prominent
immaturity
; the findings are supportive of progressive deterioration of renal function in this infant. This case suggests that TIN in
CED
can occur during the fetal period and progress rapidly, leading to end-stage renal failure in infancy.
...
PMID:Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia. 1649 15
