01.08.2024 | Scientific Letter
Hemophagocytic Lymphohistiocytosis in Lysinuric Protein Intolerance
verfasst von:
Sanjana Nalmas, Akhil Modrecha, Madhusudan Samprathi, Yankappa Nayak, Mounika Reddy
Erschienen in:
Indian Journal of Pediatrics
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Ausgabe 12/2024
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Excerpt
To the Editor: A 6-y-old girl, born to a third-degree consanguineous marriage presented with inadequate gain of weight and height since infancy; development was normal. At 6 mo of age, she had fever, pancytopenia, elevated serum ferritin and triglycerides; bone marrow biopsy revealed hemophagocytosis, satisfying criteria for hemophagocytic lymphohistiocytosis (HLH). She had recovered with antibiotics, intravenous immunoglobulin and blood transfusion. Current weight was 11.5 kg, height 91 cm (-4.98 and -4.27 z score respectively, according to the World Health Organization Growth Charts); she had pallor and hepatosplenomegaly. Metabolic causes including Gaucher disease, hemolytic anemia and skeletal dysplasia were considered. Complete blood count was normal, ferritin was 2470 mg/dl, serum lactate dehydrogenase 8839 U/L, and hemoglobin electrophoresis was normal. Beta-glucosidase enzyme essay was normal (7.8 nmol/h/mg; control 7.2, range 6–9) ruling out Gaucher disease. Whole exome sequencing revealed homozygous deletion and insertion variant in exon 2 of the SLC7A7 gene (chr14:g.22813003_22813022delinsAATGATGGCCTGGCTGG; Depth: 81x) resulting in an in-frame deletion of amino acids, Isoleucine and Proline at codon 126 and 129 (p.Ile126_Gln132delinsThrSerGlnAlaIleIle; ENST00000674313.1). This mutation has not been reported in the 1000 genomes or in the genome aggregation database (gnomAD). A diagnosis of lysinuric protein intolerance (LPI) was made. …