In:
Journal of Pediatric Endocrinology and Metabolism, Walter de Gruyter GmbH, Vol. 33, No. 10 ( 2020-10-25), p. 1283-1288
Abstract:
Hyperinsulinemic hypoglucemia (HH) is characterized by a dysregulation of insulin secretion from pancreatic β cells. Congenital hyperinsulinism has been associated with specific genes in monogenic forms and also with other diseases with a yet unknown genetic cause. In 2017, Rubio Cabezas et al. described the association of HH and autosomal recessive polycystic kidney disease (ARPKD) with a promoter mutation in the PMM 2 gene. They found that all the patients carried a promoter mutation (c-167G 〉 T) in PMM 2, either homozygous or in trans with a second PMM 2 coding mutation. Methods We performed the study of the PMM 2 gene in six patients from four unrelated families, previously diagnosed with ARPKD and HH. Results All these patients had in common the heterozygous variant c-167G 〉 T in the promoter region for PMM 2. Additionally, each patient carried a compound heterozygote for a second missense mutation in this gene (p.Arg141His, p.Asp148Asn or p.Phe157Ser), previously reported as pathogenic for congenital disorder of glycosylation type Ia, with an autosomal recessive inheritance pattern. Unlike the previous published article, two of our patients showed altered type 1 pattern and one of them with rectal bleeding that could be a sign of PMM2-congenital disorders of glycosylation. Conclusion We propose the study of this gene when carrying out the diagnosis of patients with HH, especially in the neonatal period and when a recessive polycystic kidney disease without alterations in PKDH1 is diagnosed.
Type of Medium:
Online Resource
ISSN:
2191-0251
,
0334-018X
DOI:
10.1515/jpem-2020-0168
Language:
English
Publisher:
Walter de Gruyter GmbH
Publication Date:
2020
detail.hit.zdb_id:
1231070-0
detail.hit.zdb_id:
2583847-7
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