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Cystinosis, atypical nephropathic

MedGen UID:
413668
•Concept ID:
C2749685
•
Disease or Syndrome
Synonym: CYSTINOSIS, ATYPICAL NEPHROPATHIC
 
OMIM®: 219800; 606272

Recent clinical studies

Diagnosis

Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge.
Deepthi B, Krishnamurthy S, Karunakar P, Barathidasan G, Rajavelu TN
CEN Case Rep 2022 Aug;11(3):347-350. Epub 2022 Jan 20 doi: 10.1007/s13730-021-00675-x. PMID: 35048353Free PMC Article
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.
Joyce E, Ho J, El-Gharbawy A, Salgado CM, Ranganathan S, Reyes-Múgica M
Pediatr Dev Pathol 2017 Jan-Feb;20(1):72-75. doi: 10.1177/1093526616683873. PMID: 28276300

Therapy

Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge.
Deepthi B, Krishnamurthy S, Karunakar P, Barathidasan G, Rajavelu TN
CEN Case Rep 2022 Aug;11(3):347-350. Epub 2022 Jan 20 doi: 10.1007/s13730-021-00675-x. PMID: 35048353Free PMC Article

Clinical prediction guides

Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis.
Bellomo F, Signorile A, Tamma G, Ranieri M, Emma F, De Rasmo D
Cell Mol Life Sci 2018 Sep;75(18):3411-3422. Epub 2018 Mar 16 doi: 10.1007/s00018-018-2800-5. PMID: 29549422

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