hereditary kidney disease
Conditions
Interventions
Case series:None
Sponsors
Provincial Hospital affiliated to Shandong First Medical University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. The inclusion criteria for children (< 18 years old) who met any of the following specific clinical symptoms: (1)Intermittent severe extremity pain or paresthesia; (2)Angiokeratomas; (3)Hypohidrosis or anhidrosis or heat or cold intolerance or recurrent fever; (4)Cornea verticillata ; (5)Unexplained proteinuria, hematuria, chronic kidney disease, renal failure, renal replacement therapy (dialysis, kidney transplantation); (6)Family history of the above symptoms; 2. The inclusion criteria for adults who met any of the following specific clinical symptoms: (1)Department of Nephrology : unexplained proteinuria, hematuria, chronic kidney disease; (2)Department of Cardiology: unexplained hypertrophic cardiomyopathy, arrhythmia, heart failure; (3)Department of Neurology: middle-young stroke patients with unknown cause; (4)Family history of chronic kidney disease or hypertrophic cardiomyopathy; 3. Accompanied or previously accompanied with any of the following specific clinical symptoms: (1)Intermittent severe extremity pain or paresthesia; (2)Angiokeratomas; (3)Hypohidrosis or anhidrosis or heat or cold intolerance or recurrent fever; (4)Cornea verticillata,hearing loss; (5)Family history of the above symptoms.
Exclusion criteria
Exclusion criteria: 1.Hypertensive or diabetic nephropathy confirmed by renal biopsy; 2.Secondary causes such as SLE, AAV, henoch-schonlein purpura, hereditary kidney disease confirmed by previous genetic testing, or other confirmed kidney diseases, or underwent bilateral native kidneys nephrectomy; 3.Confirmed diseases that lead to cardiac hypertrophy, arrhythmia, or heart failure (e.g., hypertrophic cardiomyopathy, glycogen storage disease, primary carnitine deficiency, myocardial amyloidosis, aortic disease, etc.); 4.Confirmed diseases that lead to stroke in young-middle people (such as lupus arteritis, polyarteritis nodosa multiple arteritis, temporal arteritis, non-specific obliterans arteritis, fibromuscular dysplasia, hemangioma and cerebrovascular malformation, blood system diseases, etc.); 5.Confirmed diseases that lead to extremity pain (such as rheumatoid arthritis, osteoarthritis, diabetic peripheral neuropathy, etc.); 6.Confirmed diseases that lead to skin spot (henoch-schonlein purpura, a skin rash or other types of angioblastoma, etc.).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Whole exome sequencing; | — |
Countries
China
Contacts
Public ContactWang Rong
Provincial Hospital affiliated to Shandong First Medical University
Outcome results
None listed