Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study
Introduction: Congenital pancreatic lipase deficiency (MIM 614338) is a rare genetic disorder caused by homozygous mutation in the PNLIP gene. Few cases have been reported worldwide and among them, few cases were genetically confirmed. Patients and methods: A 3-year-old girl presented with abundant...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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SAGE Publishing,
2022-03-01T00:00:00Z.
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| Summary: | Introduction: Congenital pancreatic lipase deficiency (MIM 614338) is a rare genetic disorder caused by homozygous mutation in the PNLIP gene. Few cases have been reported worldwide and among them, few cases were genetically confirmed. Patients and methods: A 3-year-old girl presented with abundant greasy diarrhea started at the age of 2 years. Work up of steatorrhea including molecular testing of PNLIP gene in the patient and her family was done. Results: A novel homozygous variant c.1257G > A (p. Trp419Ter) of the PNLIP gene was detected in the patient. Her parents and two siblings were carriers for the same mutation. Pancreatic enzyme therapy was introduced, and a multidisciplinary team was involved with the education for the need for the lifelong use of pancreatic enzymes, and genetic counseling was carried out. There was a great improvement of steatorrhea with pancreatic enzymes treatment. Conclusions: PNLIP deficiency should be suspected in patients with steatorrhea who have low pancreatic lipase and an otherwise normal health and appropriate growth. |
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| Item Description: | 2040-6231 10.1177/20406223221078757 |