Open AccessHirschsprung′s disease with infantile nephropathic cystinosis
Author(s) -
Deepak Mittal,
Arvind Bagga,
Radhika Tandon,
Mehar Chand Sharma,
Veereshwar Bhatnagar
Publication year - 2015
Publication title -
journal of indian association of pediatric surgeons
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.306
H-Index - 17
eISSN - 1998-3891
pISSN - 0971-9261
DOI - 10.4103/0971-9261.159033
Subject(s) - medicine , cystinosis , pediatrics , disease , cystine , biochemistry , chemistry , cysteine , enzyme
The case of a 3-year-old boy diagnosed to have Hirschsprung's disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information. The association is incidental and has not reported before in the English literature.