scholarly journals Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and beyond

2020 ◽  
Author(s):  
Jiyoung Oh ◽  
Jae Il Shin ◽  
Keumwha Lee ◽  
CheolHo Lee ◽  
Younhee Ko ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Kidney Disease ◽  
Clinical Application ◽  
Inherited Kidney Disease

Genetic Basis of Congenital Nephrotic Syndrome

2003 ◽  
Vol 6 (6) ◽  
pp. 585-591 ◽  
Author(s):  
Laura S. Finn
Keyword(s):  
Differential Diagnosis ◽  
Nephrotic Syndrome ◽  
Kidney Disease ◽  
Glomerular Filtration ◽  
Early Onset ◽  
Genetic Basis ◽  
Congenital Nephrotic Syndrome ◽  
Young Girl ◽  
Finnish Type ◽  
Inherited Kidney Disease

A young girl presented at 1 month of age with nephrotic syndrome. By incorporating clinical and pathologic data, the diagnosis of congenital nephrotic syndrome, Finnish type, was made. The differential diagnosis of early onset nephrotic syndrome, as it pertains to this patient is discussed. This article highlights recently discovered glomerular filtration proteins and their relationship to the pathophysiology of inherited kidney disease.

scholarly journals Problems in differential diagnosis of secondary hyperparathyroidism

2021 ◽  
Vol 38 (1) ◽  
pp. 161-167
Author(s):  
S. G. Shulkina ◽  
D. O. Sirin ◽  
E. N. Smirnova ◽  
V. G. Zhelobov ◽  
N. Yu. Kolomeets ◽  
...  
Keyword(s):  
Vitamin D ◽  
Differential Diagnosis ◽  
Kidney Disease ◽  
Secondary Hyperparathyroidism ◽  
Vitamin D Deficiency ◽  
Clinical Case ◽  
Kidney Diseases ◽  
Active Form ◽  
Renal Tubules ◽  
Vitamin D Metabolism

Hyperparathyroidism is an endocrine disease characterized by excessive production of parathyroid hormone in the main cells of the parathyroid glands. Depending on the cause of this disease, there are primary, secondary (SHPT) and tertiary hyperparathyroidism. The most common causes of SHPT are vitamin D deficiency and chronic kidney disease (CKD). Vitamin D is converted to its active form by hydroxylation in the renal tubules. Developmental abnormalities and chronic kidney diseases lead to atrophy of the tubular epithelial cells that causes a violation of vitamin D metabolism and the development of SHPT, which in turn are accompanied by a violation of calcium-phosphorus metabolism and a syndrome of musculoskeletal disorders. This article presents an analysis of a clinical case of a patient diagnosed secondary hyperparathyroidism against the background of vitamin D deficiency combined with polycystic kidney disease. This clinical case reflects the complexity of the differential diagnosis of the disease and the tactics of patient's management.

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