PMID- 34224517
OWN - NLM
STAT- MEDLINE
DCOM- 20220419
LR  - 20220422
IS  - 1536-3678 (Electronic)
IS  - 1077-4114 (Linking)
VI  - 44
IP  - 2
DP  - 2022 Mar 1
TI  - Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency.
PG  - e431-e433
LID - 10.1097/MPH.0000000000002237 [doi]
AB  - Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a recently 
      identified form of congenital neutropenia associated with developmental 
      anomalies. The severity of neutropenia and the clinical spectrum are highly 
      variable. Aside from infectious complications and extrahematologic features, 
      inflammatory bowel disease and autoinflammatory complications are less frequently 
      observed manifestations. However, amyloidosis has never been reported in G6PC3 
      deficiency. Here, we present a 12-year-old patient with incidentally discovered 
      neutropenia because of the p.E65A (c.194A>C) variant of the G6PC3 gene. He had 
      recurrent aphthae and abdominal pain episodes, and developed nephrotic-range 
      proteinuria, amyloidosis, and end-stage renal failure during follow-up.
CI  - Copyright (c) 2021 Wolters Kluwer Health, Inc. All rights reserved.
FAU - Yildirmak, Zeynep Yildiz
AU  - Yildirmak ZY
AD  - Departments of Pediatric Hematology/Oncology.
FAU - Ozcelik, Gul
AU  - Ozcelik G
AD  - Nephrology.
FAU - Ozagari, Ayse Aysim
AU  - Ozagari AA
AD  - Pathology, Sisli Hamidiye Etfal Training and Research Hospital, University of 
      Health Sciences, Istanbul.
FAU - Genc, Dildar Bahar
AU  - Genc DB
AD  - Departments of Pediatric Hematology/Oncology.
FAU - Onay, Huseyin
AU  - Onay H
AD  - Department of Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Pediatr Hematol Oncol
JT  - Journal of pediatric hematology/oncology
JID - 9505928
RN  - EC 3.1.3.9 (Glucose-6-Phosphatase)
RN  - EC 3.1.3.9. (G6PC3 protein, human)
RN  - Neutropenia, Severe Congenital, Autosomal Recessive 3
SB  - IM
MH  - *Amyloidosis
MH  - Child
MH  - Congenital Bone Marrow Failure Syndromes
MH  - Glucose-6-Phosphatase/genetics
MH  - Humans
MH  - Male
MH  - *Neutropenia/complications/congenital/genetics
COIS- The authors declare no conflict of interest.
EDAT- 2021/07/06 06:00
MHDA- 2022/04/20 06:00
CRDT- 2021/07/05 17:14
PHST- 2021/01/01 00:00 [received]
PHST- 2021/05/16 00:00 [accepted]
PHST- 2021/07/06 06:00 [pubmed]
PHST- 2022/04/20 06:00 [medline]
PHST- 2021/07/05 17:14 [entrez]
AID - 00043426-202203000-00035 [pii]
AID - 10.1097/MPH.0000000000002237 [doi]
PST - ppublish
SO  - J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e431-e433. doi: 
      10.1097/MPH.0000000000002237.