Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center.
HRD
Sanjad-Sakati
bowel obstruction
infections
nephrolithiasis
seizures
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2022
2022
Historique:
received:
09
04
2022
accepted:
28
06
2022
entrez:
8
8
2022
pubmed:
9
8
2022
medline:
9
8
2022
Statut:
epublish
Résumé
Hypoparathyroidism, retardation, and dysmorphism (HRD) Syndrome is a rare disease composed of hypoparathyroidism, retardation of both growth and development, and distinctive dysmorphic features. Here, we describe the long-term morbidity and mortality in a large cohort of HRD patients and suggest recommendations for follow up and treatment. Medical records of 63 HRD syndrome patients who were followed at Soroka Medical Center during 1989-2019 were reviewed retrospectively. Information regarding demographics, medical complications, laboratory findings, and imaging studies was collected. The mortality rate was 52%. The main causes of death were infectious diseases including pneumonia, septic shock, and meningitis. Multiple comorbidities were found including brain anomalies in 90% of examined patients (basal ganglia calcifications, tightening of corpus callosum, Chiari malformation, hydrocephalous, and brain atrophy), seizures in 62%, nephrocalcinosis and/or nephrolithiasis in 47%, multiple eye anomalies were recorded in 40%, bowel obstructions in 9.5%, and variable expression of both conductive and senso-neural hearing loss was documented in 9.5%. HRD is a severe multisystem disease. Active surveillance is indicated to prevent and treat complications associated with this rare syndrome.
Sections du résumé
Background
UNASSIGNED
Hypoparathyroidism, retardation, and dysmorphism (HRD) Syndrome is a rare disease composed of hypoparathyroidism, retardation of both growth and development, and distinctive dysmorphic features. Here, we describe the long-term morbidity and mortality in a large cohort of HRD patients and suggest recommendations for follow up and treatment.
Methods
UNASSIGNED
Medical records of 63 HRD syndrome patients who were followed at Soroka Medical Center during 1989-2019 were reviewed retrospectively. Information regarding demographics, medical complications, laboratory findings, and imaging studies was collected.
Results
UNASSIGNED
The mortality rate was 52%. The main causes of death were infectious diseases including pneumonia, septic shock, and meningitis. Multiple comorbidities were found including brain anomalies in 90% of examined patients (basal ganglia calcifications, tightening of corpus callosum, Chiari malformation, hydrocephalous, and brain atrophy), seizures in 62%, nephrocalcinosis and/or nephrolithiasis in 47%, multiple eye anomalies were recorded in 40%, bowel obstructions in 9.5%, and variable expression of both conductive and senso-neural hearing loss was documented in 9.5%.
Conclusion
UNASSIGNED
HRD is a severe multisystem disease. Active surveillance is indicated to prevent and treat complications associated with this rare syndrome.
Identifiants
pubmed: 35935360
doi: 10.3389/fped.2022.916679
pmc: PMC9352926
doi:
Types de publication
Journal Article
Langues
eng
Pagination
916679Informations de copyright
Copyright © 2022 David, Agur, Novoa, Shaki, Walker, Carmon, Eskin-Schwartz, Birk, Ling, Schreiber, Loewenthal, Haim and Hershkovitz.
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