Intractable diarrhea in infancy and molecular analysis : We are beyond the tip of the iceberg
Copyright © 2023 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved..
BACKGROUND: Intractable diarrhea (ID) could be defined as a syndrome of severe chronic diarrhea associated with malnutrition not easily resolved by conventional management.
AIMS: To provide an overview on etiology and management of ID patients in Italy in the last 12 years.
METHODS: The members of Italian Society for Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) enrolled all ID patients seen between January 1, 2011 and December 31, 2022.
RESULTS: 69 children were enrolled (49 M, 20 F; median age at ID onset 9.5 days) from 7 tertiary care pediatric centers. Overall 62 patients had genetic diseases; 3 had infantile Inflammatory Bowel Disease and 1 autoimmune enteropathy in absence of genetic mutations; 2 undefined ID. Defects of intestinal immune-related homeostasis caused ID in 29 patients (42 %).
CONCLUSION: ID is a rare but challenging problem, although the potential for diagnosis has improved over time. In particular, molecular analysis allowed to identity genetic defects in 90 % of patients and to detect new genetic mutations responsible for ID. Due to both the challenging diagnosis and the treatment for many of these diseases, the close relationship between immune system and digestive tract should require a close collaboration between pediatric immunologists and gastroenterologists, to optimize epidemiologic surveillance and management of ID.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:56 |
|---|---|
| Enthalten in: |
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver - 56(2024), 4 vom: 01. Apr., Seite 607-612 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Diamanti, A [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Children |
|---|
| Anmerkungen: |
Date Completed 25.03.2024 Date Revised 08.04.2024 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.dld.2023.09.002 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM365352101 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM365352101 | ||
| 003 | DE-627 | ||
| 005 | 20240409232248.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.dld.2023.09.002 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1370.xml |
| 035 | |a (DE-627)NLM365352101 | ||
| 035 | |a (NLM)38044226 | ||
| 035 | |a (PII)S1590-8658(23)00939-8 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Diamanti, A |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Intractable diarrhea in infancy and molecular analysis |b We are beyond the tip of the iceberg |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 25.03.2024 | ||
| 500 | |a Date Revised 08.04.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved. | ||
| 520 | |a BACKGROUND: Intractable diarrhea (ID) could be defined as a syndrome of severe chronic diarrhea associated with malnutrition not easily resolved by conventional management | ||
| 520 | |a AIMS: To provide an overview on etiology and management of ID patients in Italy in the last 12 years | ||
| 520 | |a METHODS: The members of Italian Society for Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) enrolled all ID patients seen between January 1, 2011 and December 31, 2022 | ||
| 520 | |a RESULTS: 69 children were enrolled (49 M, 20 F; median age at ID onset 9.5 days) from 7 tertiary care pediatric centers. Overall 62 patients had genetic diseases; 3 had infantile Inflammatory Bowel Disease and 1 autoimmune enteropathy in absence of genetic mutations; 2 undefined ID. Defects of intestinal immune-related homeostasis caused ID in 29 patients (42 %) | ||
| 520 | |a CONCLUSION: ID is a rare but challenging problem, although the potential for diagnosis has improved over time. In particular, molecular analysis allowed to identity genetic defects in 90 % of patients and to detect new genetic mutations responsible for ID. Due to both the challenging diagnosis and the treatment for many of these diseases, the close relationship between immune system and digestive tract should require a close collaboration between pediatric immunologists and gastroenterologists, to optimize epidemiologic surveillance and management of ID | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a Children | |
| 650 | 4 | |a Genetic analysis | |
| 650 | 4 | |a Intractable diarrhea | |
| 650 | 4 | |a Parenteral nutrition | |
| 700 | 1 | |a Trovato, C M |e verfasserin |4 aut | |
| 700 | 1 | |a Gandullia, P |e verfasserin |4 aut | |
| 700 | 1 | |a Lezo, A |e verfasserin |4 aut | |
| 700 | 1 | |a Spagnuolo, M I |e verfasserin |4 aut | |
| 700 | 1 | |a Bolasco, G |e verfasserin |4 aut | |
| 700 | 1 | |a Capriati, T |e verfasserin |4 aut | |
| 700 | 1 | |a Lacitignola, L |e verfasserin |4 aut | |
| 700 | 1 | |a Norsa, L |e verfasserin |4 aut | |
| 700 | 1 | |a Francalanci, P |e verfasserin |4 aut | |
| 700 | 1 | |a Novelli, A |e verfasserin |4 aut | |
| 700 | 0 | |a Nutrition Sigenp group |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver |d 2000 |g 56(2024), 4 vom: 01. Apr., Seite 607-612 |w (DE-627)NLM108968790 |x 1878-3562 |7 nnns |
| 773 | 1 | 8 | |g volume:56 |g year:2024 |g number:4 |g day:01 |g month:04 |g pages:607-612 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.dld.2023.09.002 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 56 |j 2024 |e 4 |b 01 |c 04 |h 607-612 | ||