1. First Symptoms
From day 1:
Weight loss above 10% in the first 24h; high creatinin; disturbed ionogram; excessive thirst
→ thirst is easily visible for mother breast feedings
Patient Journey on Kidney Dysplasia
- from patients for patients -
The path with bilateral renal hypoplasia and reflux nephropathy (RVU) is characterised by particular challenges. Bilateral renal hypoplasia can occur early in life and affect kidney development. Reflux nephropathy leads to complex problems in the function of the urinary tract. Diagnosis includes imaging studies and initiates treatment strategies that may include medical or surgical interventions. Customised treatment that takes into account the unique aspects of each condition is critical for people coping with the complexities of bilateral renal hypoplasia and RVU.
Needs ▾
Train obstetricians and pediatricians from maternity services on renal rare diseases leading to natal CKD and on tracking family history
Ideally ▾
- Early diagnosis is crucial to ensure the correct diet and to start medication when needed
2. Diagnosis
Ultrasounds at day 1
Genetic testing for known genomic aberrations
Possible predictive biomarker for transplantation is creatinin normalization at age 1
→ diagnosis is also possible during pregnancy by ultrasounds
Needs ▾
Ensure the ultrasounds is performed by an experimented radiologist
Do not wait to perform genetic testing, if care-givers agreed on it
For ultrasounds follow-up during pregnancy, it would worth to develop a more relevant diagnostic tool, allowing to identify more precisely monitoring
In case of future pregnancy, explain the risk level of having a child with a severe renal disease before conception when possible
Ideally ▾
Psychological support will be needed to parents/family
3. More symptoms
Follow-up depending on the disease evolution
Restricted diet (e.g. first age milk up to 18m)
Starts pyelonephriti/urinary tract infections and related iterative hospitalizations
Increase of blood disorders (phospho-calcemia disorders, anemia, PTH/VitD disorders) hypertension
Proteinuria
Lack of growth hormones
Needs ▾
Minimize as much as possible the follow up visits in reference centers, liaise as much as possible with the local pediatrician and allow patients to perform blood samplings in local laboratories
Ensure as much as possible hospitalization at home and/or in a close hospital from home with a direct connection with reference center
For specific surgery perform it in a reference center
Offer psychological support for the children. Provide educational material on rare kidney diseases to the teacher
Ideally ▾
- Accept parents requesting a second opinion/advice on the disease
- Free access via prescription to psychologists, to dietiticians, physiotherapies
4.Peadiatric dialysis
Common for all pediatric diseases (in some diseases no more urine, but for hypodysplasia this is still the case)
Needs ▾
Explain the different dialysis
Ideally ▾
- Maintain as much as possible QoL
- Psychological support mandatory
5. Transplantation
Think of dehydration first and give fluids intravenous all the time while a patient is not allowed to drink