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Tytuł:
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Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.
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Autorzy:
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Ron HA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Scobell R; Division of Nephrology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Strong A; Division of Nephrology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Salazar EG; Division of Neonatalogy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ganetzky R; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
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Źródło:
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American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3312-3317. Date of Electronic Publication: 2022 Aug 16.
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Typ publikacji:
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Case Reports; Review; Research Support, N.I.H., Extramural
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Język:
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English
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Imprint Name(s):
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Publication: Hoboken, N.J. : Wiley-Blackwell
Original Publication: Hoboken, N.J. : Wiley-Liss, c2003-
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MeSH Terms:
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Adrenal Gland Diseases*
Adrenal Insufficiency*/diagnosis
Adrenal Insufficiency*/genetics
Calcinosis*/diagnosis
Calcinosis*/genetics
Lyases*
Nephrotic Syndrome*/pathology
Aldehyde-Lyases/genetics ; Child ; Female ; Humans ; Infant, Newborn ; Pregnancy ; Sphingosine ; Steroids ; Syndrome
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References:
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Grant Information:
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K08 DK113250 United States DK NIDDK NIH HHS; T32 GM008638 United States GM NIGMS NIH HHS
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Contributed Indexing:
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Keywords: SGPL1; adrenal calcifications; congenital nephrotic syndrome; lysosomal acid lipase deficiency; sphingosine lyase insufficiency syndrome
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Substance Nomenclature:
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0 (Steroids)
EC 4.- (Lyases)
EC 4.1.2.- (Aldehyde-Lyases)
NGZ37HRE42 (Sphingosine)
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Entry Date(s):
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Date Created: 20220816 Date Completed: 20221011 Latest Revision: 20231102
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Update Code:
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20240104
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PubMed Central ID:
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PMC9548492
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DOI:
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10.1002/ajmg.a.62956
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PMID:
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35972040
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Sphingosine Lyase Insufficiency Syndrome (SPLIS) or SGPL1 Deficiency is a newly described entity that is characterized by steroid-resistant nephrotic syndrome, primary adrenal insufficiency, lymphopenia, ichthyosis, and/or endocrine and neurologic abnormalities. The earliest identification of SGPL1 pathogenic variants in association with this syndrome was reported in 2017. Since then, at least 36 patients have been reported with this pediatric syndrome. Here, we report a new patient with SPLIS who had a prenatal finding of adrenal calcifications, congenital nephrotic syndrome, and abnormal newborn screening concerning for Severe Combined Immunodeficiency. We conclude that SPLIS is a clinically recognizable condition with prenatal onset. This case should increase awareness of SPLIS in the differential diagnosis for adrenal calcifications. We present a case on the severe end of the clinical spectrum of SPLIS, and a review of the literature.
(© 2022 Wiley Periodicals LLC.)