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Cell Calcium Jul 2015Cl(-) transport in animal cells has fundamental physiological roles and it is mediated by a variety of protein families, one of them being the CLC family of ion channels... (Review)
Review
Cl(-) transport in animal cells has fundamental physiological roles and it is mediated by a variety of protein families, one of them being the CLC family of ion channels and transporters. Besides their physiological relevance, CLC proteins show peculiar biophysical properties. This review will focus on a member of the CLC protein family, the endosomal Cl(-)/H(+) antiporter ClC-5. ClC-5 mutations cause Dent's disease, a renal syndrome due to defective protein reabsorption in the proximal tubule. This established the critical function of ClC-5 for endocytosis. However, our understanding of ClC-5's molecular role in endosomes and of its biophysical properties has proved elusive in spite of important progress achieved in the last two decades. Early models in which ClC-5 would provide a shunt conductance to enable efficient endosomal acidification conflicted with the antiport activity of ClC-5 that has more recently emerged. Currently, the physiological role of ClC-5 is hotly debated and its biophysical properties are still not fully understood.
Topics: Animals; Chloride Channels; Dent Disease; Endosomes; Humans; Ion Transport; Protein Structure, Tertiary; Vacuolar Proton-Translocating ATPases
PubMed: 25443653
DOI: 10.1016/j.ceca.2014.09.007 -
International Journal of Clinical... 2016Oral lesions in neonates represent a wide range of diseases often creating apprehension and anxiety among parents. Early examination and prompt diagnosis can aid in... (Review)
Review
Oral lesions in neonates represent a wide range of diseases often creating apprehension and anxiety among parents. Early examination and prompt diagnosis can aid in prudent management and serve as baseline against the future course of the disease. The present review aims to enlist and describe the diagnostic features of commonly encountered oral lesions in neonates. How to cite this article: Patil S, Rao RS, Majumdar B, Jafer M, Maralingannavar M, Sukumaran A. Oral Lesions in Neonates. Int J Clin Pediatr Dent 2016;9(2):131-138.
PubMed: 27365934
DOI: 10.5005/jp-journals-10005-1349 -
British Dental Journal Feb 2021
Topics: Drug-Related Side Effects and Adverse Reactions; Humans; Iatrogenic Disease; Vaccination
PubMed: 33637895
DOI: 10.1038/s41415-021-2746-0 -
World Journal of Pediatrics : WJP Jun 2021Hereditary renal tubular disease can cause hypercalciuria, acid-base imbalance, hypokalemia, hypomagnesemia, rickets, kidney stones, etc. If these diseases are not... (Review)
Review
BACKGROUND
Hereditary renal tubular disease can cause hypercalciuria, acid-base imbalance, hypokalemia, hypomagnesemia, rickets, kidney stones, etc. If these diseases are not diagnosed or treated in time, they can cause kidney damage and electrolyte disturbances, which can be detrimental to the maturation and development of the child. Glomerular involvement in renal tubular disease patients has only been considered recently.
METHODS
We screened 71 papers (including experimental research, clinical research, etc.) about Dent's disease, Gitelman syndrome, and cystinosis from PubMed, and made reference.
RESULTS
Glomerular disease was initially underestimated among the clinical signs of renal tubular disease or was treated merely as a consequence of the tubular damage. Renal tubular diseases affect glomerular podocytes through certain mechanisms resulting in functional damage, morphological changes, and glomerular lesions.
CONCLUSIONS
This article focuses on the progress of changes in glomerular podocyte function in Dent disease, Gitelman syndrome, and cystinosis for the purposes of facilitating clinically accurate diagnosis and scientific treatment and improving prognosis.
Topics: Child; Cystinosis; Gitelman Syndrome; Humans; Kidney Calculi; Kidney Glomerulus; Podocytes
PubMed: 33625696
DOI: 10.1007/s12519-021-00417-0 -
Renal Failure Dec 2024The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve...
OBJECTIVE
The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve pediatricians' awareness of and attention to this disease.
METHODS
We analyzed the clinical and laboratory data of 15 Chinese children with Dent disease who were diagnosed and treated at our hospital between January 2017 and May 2023 and evaluated the expression of the and genes.
RESULTS
All 15 patients were male and complained of proteinuria, and the incidence of low-molecular-weight proteinuria (LMWP) was 100.0% in both Dent disease 1 (DD1) and Dent disease 2 (DD2) patients. The incidence of hypercalciuria was 58.3% (7/12) and 66.7% (2/3) in DD1 and DD2 patients, respectively. Nephrocalcinosis and nephrolithiasis were found in 16.7% (2/12) and 8.3% (1/12) of DD1 patients, respectively. Renal biopsy revealed focal segmental glomerulosclerosis (FSGS) in 1 patient, minimal change lesion in 5 patients, and small focal acute tubular injury in 1 patient. A total of 11 mutations in the gene were detected, including 3 missense mutations (25.0%, c.1756C > T, c.1166T > G, and c.1618G > A), 5 frameshift mutations (41.7%, c.407delT, c.1702_c.1703insC, c.137delC, c.665_666delGGinsC, and c.2200delG), and 3 nonsense mutations (25.0%, c.776G > A, c.1609C > T, and c.1152G > A). There was no significant difference in age or clinical phenotype among patients with different mutation types ( > 0.05). All three mutations in the gene were missense mutations (c.1477C > T, c.952C > T, and c.198A > G).
CONCLUSION
Pediatric Dent disease is often misdiagnosed. Protein electrophoresis and genetic testing can help to provide an early and correct diagnosis.
Topics: Humans; Male; Child; Chloride Channels; Retrospective Studies; Child, Preschool; China; Dent Disease; Phosphoric Monoester Hydrolases; Mutation; Proteinuria; Adolescent; Hypercalciuria; Nephrocalcinosis; Nephrolithiasis; Infant; Genetic Testing; Genetic Diseases, X-Linked; Mutation, Missense; Female; Glomerulosclerosis, Focal Segmental; Kidney; East Asian People
PubMed: 38726999
DOI: 10.1080/0886022X.2024.2349133 -
Pathogens and Global Health Dec 2022Malaria and malnutrition are major public health problems in India, especially in the rural and tribal communities, and also remain primary causes of morbidity and...
Malaria and malnutrition are major public health problems in India, especially in the rural and tribal communities, and also remain primary causes of morbidity and mortality among children younger than five years. Both diseases are synergistic with each other. It is essential to have a better understanding of the intricate relationships between malnutrition and malaria to target interventions in areas where both diseases coexist. This article highlights the synergistic relationship between malnutrition and malaria, and how malnutrition and malaria play a significant role in disease severity and eventually hinder the elimination of these diseases by 2030. The government and several private sectors have made a substantial dent through various programmes and schemes. However, supplementing nutrition-sensitive measures, including easy accessibility to a healthy balanced diet, safe drinking water and improved sanitation, is necessary. Therefore, if India really aims to achieve its dream of disease elimination (malaria and all forms of malnutrition) by 2030, it is imperative that tribal regions are given more attention and all possible strategies are applied in the country's remotest corners.
Topics: Child; Humans; Malnutrition; Nutritional Status; Malaria; Sanitation; Disease Eradication; India
PubMed: 35818754
DOI: 10.1080/20477724.2022.2100190 -
Journal (Indiana Dental Association) 2016A link between periodontal disease and various systemic diseases has been investigated for several years. Interest in unearthing such a link has grown as the health care... (Review)
Review
A link between periodontal disease and various systemic diseases has been investigated for several years. Interest in unearthing such a link has grown as the health care profession is looking for a better understanding of disease processes and their relationships to periodontal and other oral diseases. The article aims to provide recent information on the relationship between periodontal disease and systemic diseases such as; cardiovascular, respiratory, endocrine, musculoskeletal, and reproductive system related abnormalities.
Topics: Humans; Oral Health; Periodontal Diseases; Risk Factors
PubMed: 26939411
DOI: No ID Found -
Gene Jul 2020Proteinuria is a well-known risk factor, not only for renal disorders, but also for several other problems such as cardiovascular diseases and overall mortality. In the... (Review)
Review
Proteinuria is a well-known risk factor, not only for renal disorders, but also for several other problems such as cardiovascular diseases and overall mortality. In the kidney, the chloride channel Cl/H exchanger ClC-5 encoded by the CLCN5 gene is actively involved in preventing protein loss. This action becomes evident in patients suffering from the rare proximal tubulopathy Dent disease because they carry a defective ClC-5 due to CLCN5 mutations. In fact, proteinuria is the distinctive clinical sign of Dent disease, and mainly involves the loss of low-molecular-weight proteins. The identification of CLCN5 disease-causing mutations has greatly improved our understanding of ClC-5 function and of the ClC-5-related physiological processes in the kidney. This review outlines current knowledge regarding the CLCN5 gene and its protein product, providing an update on ClC-5 function in tubular and glomerular cells, and focusing on its relationship with proteinuria and Dent disease.
Topics: Animals; Chloride Channels; Dent Disease; Endocytosis; Humans; Kidney; Mutation; Phenotype
PubMed: 32289351
DOI: 10.1016/j.gene.2020.144662 -
British Dental Journal Mar 2017Evidence summary: the relationship between oral and cardiovascular disease.
Evidence summary: the relationship between oral and cardiovascular disease.
Topics: Cardiovascular Diseases; Humans; Mouth; Periodontitis
PubMed: 28281599
DOI: 10.1038/sj.bdj.2017.217 -
British Dental Journal Dec 2020
Topics: Emergencies; Humans; Pulmonary Disease, Chronic Obstructive; Sepsis
PubMed: 33311661
DOI: 10.1038/s41415-020-2465-y