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Blue Diaper Syndrome and PCSK1 Mutations.
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- Additional Information
- Source:
Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE
- Publication Information:
Publication: Elk Grove Village Il : American Academy of Pediatrics
Original Publication: Springfield, Ill., Thomas.
- Subject Terms:
- Abstract:
Blue diaper syndrome (BDS) (Online Mendelian Inheritance in Man number 211000) is an extremely rare disorder that was first described in 1964. The characteristic finding is a bluish discoloration of urine spots in the diapers of affected infants. Additional clinical features of the first described patients included diarrhea, inadequate weight gain, hypercalcemia, and nephrocalcinosis. An intestinal defect of tryptophan absorption was postulated as the underlying pathology. However, functional evidence for this theory is lacking. No genetic cause has been identified so far. Here, we report on a boy who presented with neonatal-onset diarrhea, metabolic acidosis, transient hepatopathy, recurrent hypoglycemia, and blue-stained urine spots in his diapers. An ultra-performance liquid chromatography-electrospray ionization-tandem mass spectrometry analysis of urine samples at different time points demonstrated the constant presence of indigo derivatives, thereby confirming the diagnosis of BDS. Of note, the visibility of indigo derivatives in the urine was highly dependent on the urine's pH. To identify the underlying genetic cause of the disease, whole-exome sequencing was performed, leading to the identification of a homozygous frameshift mutation in proprotein convertase subtilisin/kexin type 1 ( PCSK1 ; NM_000439.4: c.679del, p.[Val227Leufs*12]). PCSK1 encodes prohormone convertase 1/3, and mutations within this gene have been reported as a rare cause of early-onset malabsorptive diarrhea and multiple endocrine dysfunction. In our report, we suggest that BDS can be caused by PCSK1 mutations.
Competing Interests: POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.
(Copyright © 2018 by the American Academy of Pediatrics.)
- Accession Number:
8DUH1N11BX (Tryptophan)
EC 3.4.21.93 (PCSK1 protein, human)
EC 3.4.21.93 (Proprotein Convertase 1)
- Subject Terms:
Blue diaper syndrome
- Publication Date:
Date Created: 20180404 Date Completed: 20190503 Latest Revision: 20221207
- Publication Date:
20231215
- Accession Number:
10.1542/peds.2017-0548
- Accession Number:
29610180
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