Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/nep.12539 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.
Pediatr Nephrol
January 2025
Pediatric Nephrology Rheumatology Dermatology Unit, Reference Center for Rare Renal Diseases, ORKID and ERK-Net Networks, Lyon University Hospital, Bron, France.
Article Synopsis
- Genetic testing plays a vital role in diagnosing inherited kidney diseases, as demonstrated by the case of a premature boy with complex tubulopathy who was unexpectedly diagnosed with primary hyperoxaluria type 1 (PH1).
- Despite initial treatments, the patient experienced persistent electrolyte imbalances and progressive kidney issues, prompting comprehensive genetic analysis.
- The identification of mutations in the AGXT gene led to the correct diagnosis, highlighting the importance of thorough genetic evaluations, especially in unusual cases.
Vitamin D: 100 years of discoveries, yet controversy continues.
Lancet Diabetes Endocrinol
May 2023
Maine Medical Center Research Institute, Scarborough, ME, USA.
Over the past 100 years, many major breakthroughs and discoveries have occurred in relation to vitamin D research. These developments include the cure of rickets in 1919, the discovery of vitamin D compounds, advances in vitamin D molecular biology, and improvements in our understanding of endocrine control of vitamin D metabolism. Furthermore, recommended daily allowances for vitamin D have been established and large clinical trials of vitamin D, aimed at clarifying the effect of Vitamin D in the prevention of multiple diseases, have been completed.
View Article and Find Full Text PDFUnexpected finding in kidney biopsy of a child with nephrotic proteinuria: Answers.
Pediatr Nephrol
January 2023
Department of Pediatric Nephrology, Dokuz Eylül University Medical Faculty, Balçova, Izmir, 35340, Turkey.
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.
Nephron
October 2019
Department of Pediatric Dentistry and Dental Research Institute School of Dentistry, Seoul National University, Seoul, Republic of Korea.
Background/aims: Enamel-renal syndrome is characterized by nephrocalcinosis, enamel defects, gingival hyperplasia and eruption failures. It has been recently identified that recessive mutations in the FAM20A gene result in amelogenesis imperfecta (AI)-gingival fibromatosis. The aim of this research to determine whether AI patients with known -FAM20A mutations also have nephrocalcinosis.
View Article and Find Full Text PDFUnexpected Nephrocalcinosis in a Chronic Heavy Cola Drinker.
Nephrology (Carlton)
October 2015
Nephrology, Hospital Lucus Augusti, Lugo, Spain.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!