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      Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center

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          Abstract

          Background

          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

          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

          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

          HRD is a severe multisystem disease. Active surveillance is indicated to prevent and treat complications associated with this rare syndrome.

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          Most cited references26

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          A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

          Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. Their hypocalcaemia was associated with hyperphosphataemia and very low concentrations of immunoreactive parathyroid hormone. None of the babies suffered from congenital cardiac disease. Cell mediated immunity, measured in five patients, was normal. There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear anomalies, micrognathia, and depressed nasal bridge. Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died. The remaining eight patients are on treatments with vitamin D and calcium supplements with no change in their growth pattern. We believe that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.
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            Long-Term Complications in Patients With Hypoparathyroidism Evaluated by Biochemical Findings: A Case-Control Study

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              Progressive motor neuronopathy: a critical role of the tubulin chaperone TBCE in axonal tubulin routing from the Golgi apparatus.

              Axonal degeneration represents one of the earliest pathological features in motor neuron diseases. We here studied the underlying molecular mechanisms in progressive motor neuronopathy (pmn) mice mutated in the tubulin-specific chaperone TBCE. We demonstrate that TBCE is a peripheral membrane-associated protein that accumulates at the Golgi apparatus. In pmn mice, TBCE is destabilized and disappears from the Golgi apparatus of motor neurons, and microtubules are lost in distal axons. The axonal microtubule loss proceeds retrogradely in parallel with the axonal dying back process. These degenerative changes are inhibited in a dose-dependent manner by transgenic TBCE complementation that restores TBCE expression at the Golgi apparatus. In cultured motor neurons, the pmn mutation, interference RNA-mediated TBCE depletion, and brefeldin A-mediated Golgi disruption all compromise axonal tubulin routing. We conclude that motor axons critically depend on axonal tubulin routing from the Golgi apparatus, a process that involves TBCE and possibly other tubulin chaperones.
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                Author and article information

                Contributors
                Journal
                Front Pediatr
                Front Pediatr
                Front. Pediatr.
                Frontiers in Pediatrics
                Frontiers Media S.A.
                2296-2360
                22 July 2022
                2022
                : 10
                Affiliations
                [1] 1Pediatric Endocrinology Unit, Saban Pediatric Medical Center for Israel, Soroka University Medical Center , Beer Sheva, Israel
                [2] 2Faculty of Health Sciences, Ben-Gurion University of the Negev , Beer Sheva, Israel
                [3] 3Diagnostic Radiology Department, Soroka University Medical Center , Beer Sheva, Israel
                [4] 4Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases, Faculty of Health Sciences, National Institute for Biotechnology in the Negev, Genetics Institute at Soroka University Medical Center, Ben-Gurion University of the Negev , Beer Sheva, Israel
                [5] 5Pediatric Gastroenterology Unit, Saban Pediatric Medical Center for Israel, Soroka University Medical Center , Beer Sheva, Israel
                [6] 6Pediatric Nephrology Unit, Soroka University Medical Center , Beer Sheva, Israel
                Author notes

                Edited by: Tommaso Aversa, University of Messina, Italy

                Reviewed by: Nicola Improda, University of Naples Federico II, Italy

                *Correspondence: Odeya David davidod@ 123456bgu.ac.il

                This article was submitted to Pediatric Endocrinology, a section of the journal Frontiers in Pediatrics

                Article
                10.3389/fped.2022.916679
                9352926
                e10d35ba-7f30-4d5b-8282-5199481d8ec9
                Copyright © 2022 David, Agur, Novoa, Shaki, Walker, Carmon, Eskin-Schwartz, Birk, Ling, Schreiber, Loewenthal, Haim and Hershkovitz.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

                Page count
                Figures: 1, Tables: 2, Equations: 0, References: 26, Pages: 0, Words: 5232
                Categories
                Pediatrics
                Original Research

                hrd,sanjad-sakati,infections,seizures,nephrolithiasis,bowel obstruction

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