Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.
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.
Obikane
Katsuyuki
K
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan.
Nakashima
Taiji
T
Watarai
Yoshihiko
Y
Morita
Ken
K
Cho
Kazutoshi
K
Tonoki
Hidefumi
H
Nagata
Michio
M
Sasaki
Satoshi
S
D000015:Abnormalities, Multiple; D019465:Craniofacial Abnormalities / Q000150:complications*; D004476:Ectodermal Dysplasia / Q000150:complications*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009395:Nephritis, Interstitial / Q000150:complications*; D051437:Renal Insufficiency / Q000209:etiology*