Descriptor: "X-linked genetic disorders" / Journal: pediatric nephrology / Publication Year Range: Last 3 years / Topic: child - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"X-linked genetic disorders"' showing total 5 results

Start Over Descriptor "X-linked genetic disorders" Topic child Publication Year Range Last 3 years Journal pediatric nephrology

Author: Li, Qian, Yang, Zhenle, Wang, Cong, Yu, Lichun, and Sun, Shuzhen
Subjects: *DIAGNOSIS of deafness, *KIDNEY physiology, *GENETIC disorder diagnosis, *MYOPIA, *GENETIC mutation, *X-linked genetic disorders, *BIOPSY, *SEQUENCE analysis, *NEPHRITIS, *DIFFERENTIAL diagnosis, *GENETIC disorders, *ACE inhibitors, *MULTIPLE human abnormalities, *EYE abnormalities, *PROTEINURIA, *HEARING disorders, *VISUAL acuity, *KIDNEY glomerulus
Abstract: The article presents answers to a clinical quiz about low molecular weight proteinuria, congenital myopia and hearing loss in a ten-year-old boy.
Published: 2023
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Author: Ding, Juanjuan, Liao, Panli, Zhu, Gaohong, Qi, Chang, Liu, Lili, Zhao, Peiwei, and Wang, Xiaowen
Subjects: *STREPTOCOCCAL disease diagnosis, *KIDNEY disease diagnosis, *GENETIC disorder diagnosis, *COMPLEMENT (Immunology), *MOLECULAR diagnosis, *X-linked genetic disorders, *NEPHROTIC syndrome, *KIDNEY failure, *NEPHRITIS, *FIBROSIS, *HYPERPLASIA, *PROTEINURIA, *HEMATURIA, *GLOMERULONEPHRITIS, *GENETIC techniques, *EDEMA, *CHILDREN
Abstract: A clinical quiz on a case of a pediatric male patient with gross hematuria, edema, and hypocomplementemia is presented.
Published: 2022
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Author: Bayram, Meral Torun, Yildiz, Gizem, Cağlayan, Ahmet Okay, Ulgenalp, Ayfer, Unlu, Sadiye Mehtat, Soylu, Alper, and Kavukcu, Salih
Subjects: *BIOPSY, *X-linked genetic disorders, *GENETIC mutation, *NEPHROTIC syndrome, *GENETIC testing, *MOLECULAR pathology, *PROTEINURIA, *RENAL tubular transport disorders, *KIDNEY calcification, *CHILDREN, INBORN errors of metabolism diagnosis
Abstract: A quiz concerning the unexpected fnding in kidney biopsy of a child with nephrotic proteinuria including renal tubular function tests including urine protein electrophoresis.
Published: 2023
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Author: Boussetta, Abir, Jellouli, Manel, Isa, Kawla, Bacherouch, Haythem, Sherayet, Keriima, Trabelsi, Raja A., Goucha, Rym, and Gargah, Tahar
Subjects: *LYMPHATIC disease diagnosis, *AUTOIMMUNE disease diagnosis, *INTESTINAL disease diagnosis, *AUTOANTIBODIES, *METHYLPREDNISOLONE, *X-linked genetic disorders, *LUPUS nephritis, *KIDNEYS, *BIOPSY, *INTRAVENOUS therapy, *PREDNISOLONE, *ADRENOCORTICAL hormones, *ORAL drug administration, *TYPE 1 diabetes, *AUTOIMMUNE diseases, *AUTOIMMUNE hepatitis, *MYCOPHENOLIC acid, *PROTEINURIA, *ANEMIA, *GLOMERULONEPHRITIS, *THROMBOCYTOPENIA, *ACUTE kidney failure, *KIDNEY glomerulus, *BASAL lamina, *DISEASE complications, *THERAPEUTICS, *CHILDREN
Abstract: The article presents questions on the possible diagnosis and treatments of a 10-year-old male who was presented to a pediatric department of nephrology in May 2017 due to kidney impairment and was tested with autoimmune diabetes autoantibodies.
Published: 2021
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Author: Boussetta, Abir, Jellouli, Manel, Isa, Kawla, Bacherouch, Haythem, Sherayet, Keriima, Trabelsi, Raja A, Goucha, Rym, and Gargah, Tahar
Subjects: *KIDNEYS, *X-linked genetic disorders, *KIDNEY failure, *AUTOIMMUNE diseases, *PROTEINURIA, *GLOMERULONEPHRITIS
Abstract: The article provides answers on the possible diagnosis and treatments of a 10-year-old male who was presented to a pediatric department of nephrology in May 2017 due to kidney impairment, with diagnosis of secondary membranous glomerulonephritis (MGN) and treatments like oral prednisolone.
Published: 2021
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