Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.
Calcif Tissue Int
February 2024
Department of Endocrinology, Seth G.S Medical College & KEM Hospital, OPD, Parel, Mumbai, Maharashtra, 400012, India.
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of phosphate homeostasis. We describe a single-center experience of genetically proven HHRH families and perform systematic review phenotype-genotype correlation in reported biallelic probands and their monoallelic relatives. Detailed clinical, biochemical, radiological, and genetic data were retrieved from our center and a systematic review of Pub-Med and Embase databases for patients and relatives who were genetically proven.
View Article and Find Full Text PDFClinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
J Bone Miner Res
August 2022
Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic variants in the solute carrier family 34-member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an increased risk for nephrocalcinosis and rickets/osteomalacia, muscular weakness, and secondary limb deformity. Biochemical changes, but no relevant skeletal changes, have been reported for heterozygous SLC34A3 carriers.
View Article and Find Full Text PDFJuvenile dermatomyositis: a case of delayed recognition with unusual complication of nephrocalcinosis.
BMJ Case Rep
April 2021
Pediatric Rheumatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron's papules and occasionally auto antibodies. The disease primarily affects skin and muscles, but can also affect other organs. Renal manifestations though common in autoimmune conditions like lupus are rare in JDM.
View Article and Find Full Text PDFMultifactorial Causes of Chronic Mortality in Juvenile Sturgeon ().
Animals (Basel)
October 2020
Department of Veterinary Medical Sciences, University of Bologna, 40064 Bologna, Italy.
This investigation focused on an episode of chronic mortality observed in juvenile sturgeons. The examined subjects underwent pathological, microbiological, molecular, and chemical investigations. Grossly severe body shape deformities, epaxial muscle softening, and multifocal ulcerative dermatitis were the main observed findings.
View Article and Find Full Text PDFClinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.
Neuromuscul Disord
June 2020
Department of Adult Neurology, Hamad Medical Corporation, Doha, Qatar.
Article Synopsis
- The study examines the prevalence and characteristics of congenital LAMA2-RD in 21 patients from Gulf and Middle Eastern families, revealing distinct clinical features and a relatively high point prevalence of 0.8 in 100,000 in Qatar.
- The affected patients exhibited classic symptoms like hypotonia and muscular weakness, with none achieving independent walking; unique associated features such as nephrocalcinosis and cardiac arrest were documented for the first time.
- Genetic analysis revealed LAMA2 mutations as responsible for 48% of cases, highlighting a common founder mutation found in multiple families, including novel and recurrent variants affecting LAMA2 function.
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!