Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Conditions
Interventions
Gold Standard:DMSA scan: Intravenous injection of 99mTC-DMSA5mCi is followed by anterior and posterior planar imaging of the renal area 1 hour later. The DMSA scan images are read by 2 trained radiolo
diagnosis 
of 
damage 
includes 
MRI-DWI 
and 
the 
biomarkers 
Sponsors
Children's Hospital of Fudan University
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: Patient that was diagnosed clinically and genetically as: 1. Renal parenchymal aplasia or ectopia, including simple renal aplasia,Multicystic Dysplastic Kidney, kidney tubules dysplasia, and hereditary cystic kidney: (1) disease renal agenesis (RA): With ultrasound diagnosis of unilateral renal absence; (2) Renal hypoplasia (RH)/renal dysplasia (RD) is usually defined as renal volume less than two standard deviations of the average of the same age, or renal total volume less than 50% of the normal value of the same age. RD refers to the presence of undifferentiated or not metaplastic tissue in the kidney, with or without renal volume reduction. Diagnosis is based on the ultrasonic findings of multicystic dysplastic kidney (MCDK) and the diagnosis of unilateral or bilateral renal functional defects by means of isotopic renal functional imaging (DMSA or DTPA); 2. Kidney tubular dysplasia: (1) the diagnosis of polycystic kidney disease(ADPKD/ARPKD) is mainly dependent on imaging; Patients with a family history of ADPKD can be diagnosed with more than 3 renal cysts on either side. those who with bilateral renal diffuse enlargement with multiple cysts should be clinically considered with PKD even without family history of ADPKD, and relevant gene screening is recommended; (2) Simple renal cyst: single renal cyst was found by ultrasound or other imaging examination; (3) Nephronophthisis, NPHP: ultrasonography showed enhanced renal echo or unclear boundary between cortex and medulla, with or without genetic diagnosis or involvement of other system, gene sequence should be considered. Genetic molecular diagnosis is the main diagnostic basis of NPHP diagnosis; (4) nephrocalcinosis and urinary calculi: the diagnosis depends on the ultrasound diagnosis and the examinations of serum and urine electrolyte and metabolite should be performed to further diagnose the primary disease; 3. Abnormalities of Ureter renal pelvis and/or bladder: (1) Dual collection system: Reduplication of kidney or renal pelvis/ureter depends on ultrasound, magnetic resonance imaging (MRI) diagnosis; (2) Urinary obstruction: Including ureteropelvic junction obstruction, ureterovesical junction obstruction or insufficiency. The diagnosis of obstruction depends on magnetic resonance urography (MRU) and isotopic dynamic renal imaging(DTPA); (3) vesicoureteral reflux: The diagnosis depends on voiding cysternography (VCUG); 4. Urinary tract anomalies: (1) Urethral absence/urethra atresia/ectopic orifice: Diagnosis depends on physical examination and VCUG examination; (2) Posterior urethral valve: Severe hydronephrosis can be found by ultrasound, and the diagnosis depends on VCUG examination.
Exclusion criteria
Exclusion criteria: 1. Patient with renal failure due to different causes but without urine specimen; 2. Other conditions that the researcher considers not suitable for inclusion.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| MRI-DWI images;urinary polypeptide;dimercaptosuccinic acid (DMSA) scan images; | — |
Secondary
| Measure | Time frame |
|---|---|
| disease gene; | — |
Countries
China
Contacts
Public ContactJia Rao
Children's Hospital of Fudan University
Outcome results
None listed