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Article

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.

Human mutation - 1 Dec 2017

Venet Théa, Masson Emmanuelle, Talbotec Cécile, Billiemaz Kareen, Touraine Renaud, Gay Claire, Destombe Sylvie, Cooper David N, Patural Hugues, Chen Jian-Min, Férec Claude

Abstract excerpt

Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and Shwachman-Diamond syndrome. Here we report two cases, both presenting with severe EPI around 5 months of age. Characterized by diffuse pancreatic lipomatosis, they otherwise exhibited no remarkable deficiencies in other organs. Novel non-identical homozygous...

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Source

Identifiers

PMID: 28945313
DOI: 10.1002/humu.23343

Genes

SPINK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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