• Information to the general population for regular blood and urine sample 
   

   

• Reduce the time lag before undiagnosed patients are directed towards a specialized/excellence centres
  
   
• Raise capacity of General Physicians (GP) to deal with rare diseases (initial training on RD) ​
  
   
• Create local regional advisory cells on rare diseases “GPs for RD”, for guiding local physicians and patients in case of suspicion ​

• Early diagnosis, early treatment and/or renal protection
   

• Patients need to anticipate the progression of the disease
   

• Professionals should consider INFORMATION to PATIENTS and not restrict to information on the disease when diagnosis is announced
   

• Promote clinical survey associate to biobanks to monitor the clinical history on a long-term basis
   

• Promote Patients Engagement in surveys for prognosis development
   

   

• Patients should be informed and prepared as to what to do and how to seek support when crisis occurs

• As part of the INFORMATION to PATIENTS a special section on monitoring the disease a glossary of the main indicators with the explanation linked to the renal function with perhaps a differentiation by pathology
   

• Guidelines should encompass special sections for medical crisis and complications
   

• Offer to all patients the largest choice possible options for dialysis
   

• Produce INFORMATION TO PATIENTS on Dialysis Pathways (booklet)
   

• Better information about structures for holidays
   

• Living donor transplant to be considered as the first choice for ESRD
   

• Remove legal and practical barriers for cross match donation
   

• Promote organ donation
   

• Booklet on INFORMATION TO PATIENTS on Transplant Pathways
   

• Share (and explain) information regarding the risk level of having a child with a severe renal disease before conception ​
   
• Offer to the parents the access to foetus genetic testing ​

• Re-enforce (or create strong) links between nephrologist and obstetricians ​
   
• Train obstetricians on kidney diseases ​

• Do urinary test and send the child to nephrologist
   
• Do an ultrasound of the kidney
   
• Better coordination between ophthalmologists and nephrologists would avoid late diagnoses

• Early diagnoses slow down the disease and prevent other diseases
   
• Grant and cover all the treatments by the HCS

• Study and genetic counselling
   
• School understanding due of regular medical controls or hospitalisations
   
• Psychological support. EPO or growth treatment hormone
   
• Grant and cover all the treatments by HCS

• Granting treatments when necessary
   
• Give information about Patient Associations
   
• Perform genetic study
   
• Include psychological support
   
• Subsidy of treatments by the HCS

• Psychological support
   
• Renal replacement therapy or transplant
   
• School education during the dialysis period
   
• Transportation to the dialysis center

• Advice on dialysis options
   
• Psychological support for patient and parents
   
• Advice on dialysis options
   
• Include peritoneal dialysis
   
• In children, take the school to the hospital
   
• Transportation to the dialysis center by ambulance

• Psychological support
   
• Renal replacement therapy or transplant
   
• School education during the dialysis period
   
• Transportation to the dialysis center

• Advice on dialysis options
   
• Psychological support for patient and parents
   
• Advice on dialysis options
   
• Include peritoneal dialysis
   
• In children, take the school to the hospital
   
• Transportation to the dialysis center by ambulance

• Immunosuppressive treatment
   
• Evolution tracking
   
• Psychological support
   
• Renal replacement therapy or new transplant

• Multidisciplinary follow-up
   
• Psychological support for patient and parents

• Immunosuppressive treatment
   
• Evolution tracking... Psychological support
   
• Renal replacement therapy or new transplant

• Multidisciplinary follow-up
   
• Psychological support for patient and parents

• Progressive and coordinated transition
   
• Patient and parent education

• Coordination between pediatric and adult nephrologists
   
• Help from other patients.

• Listen to parents, believe what they tell about their children
   

• Do urine tests (glucose) and blood tests (loss of electrolytes; dehydration) even in very young children
   

   

• Early diagnosis is crucial
   
• Treatment to slow down the progress of the disease can be given from day 1 is available and has to be prescribed and paid by insurances in all countries

• Give well informed the right diagnosis
   
• Explain about the disease, not only give its name
   
• Give information about patient organisation and recommend strongly to get in contact
   

• Nephrologic pediatrist cooperates with a specialized interdisciplinary center for cystinosis, but stays the main partner of the patient (family)
   

• No long stay in the clinic, no examinations that are not necessary
   

   

• Care coordination in a multidisciplinary team: This is a metabolic disease with many different health problems involved
   

• Free access to medicines and further treatment

   

• Psychosocial as well as medical care
   
• Openness to new ideas is important, therefore accept patients’ solutions in dealing with daily life problems 
   

• A multidisciplinary approach is important, including nephrologist, ophthalmologist, internist in metabolic diseases and if required, an endocrinologist, a social worker and/or neurologist
   

   

• Transition from paediatric to adult care is a precarious process, which is best done in a cystinosis center of expertise. Information on the use of cysteamine is crucial
   

• A multi-disciplinary team of experienced specialists working hand in hand in one clinic seeing many patients is the best for all patients

   

  
   

   

• Information
   
• Dialysis
   
• Drugs to reduce high blood pressure

• Information about treatment options. Liaison to patient organization/ other patients
   
• Information about the rare disease and genetic counseling
   

• Well informed patient
   

• Complete understanding of disease and consequences for life 
   

   

• Information about alternative treatment options (transplantation in combination with your rare disease)​
   

• Discuss dialysis options​
   

• Information about chance of success and start treatment eculizumab (if available, due to extreme high costs) ​
   

• Guidance by a dietician, on a regular basis​
   
• Good working shunt 
   

• Individualized treatment with eculizumab, with approval of Health Minister and funded by health insurance​

• Alternative in food instead of drugs

   

  
   

   

• To be taking seriously​
   

• Adequate recognition symptoms​
   

• Adequate blood and urine tests & blood pressure measurements
   

Causes > 70% due to genetic abnormalities in complement genes of the alternative pathway or auto-antibodies against complement factor 

• Early diagnosis is crucial
   
• Treatment to slow down the progress of the disease can be given from day 1 is available and has to be prescribed and paid by insurances in all countries

• Information about the rare disease and genetic counseling
   
• Information about treatment options (complement inhibition, plasma therapy, in case of permanent kidney failure renal replacement therapy)
   
• Psychosocial support; liaison to patient organization / other patients
   

• Information about therapy (including kidney replacement therapy, guidance regarding diet)
   
• Various medications and genetic findings complement gene analysis (expertise center)
   
• Psychosocial support
   
• Liaison to patient organization/ other patients

• Information discontinuation complement inhibition
   
• Monitoring disease activity
   
• Strategy when and how to contact your physician
   
• Having knowledge and guidance in recognizing signs, symptoms, risk factors of relapse
   
• Immediate restart complement inhibition in case of relapse
   
• Psychosocial support

• Genetic counselling
   

• Psychological support
   

• Information and liaison with other patients
   

• Perform genetic study include psychological support ​

• Information about the medicine and possible secondary effect
   
• Raise capacity in dealing with nutrition
   

• Lighten medical load on patient and family by grouping the visits to medical doctors in hospital (Neprology, Hear, eye, nutrition, psychology,..) ​
   

   

• Recognition of a chronic diseases requiring treatment for life​
   

• Reduce anxiety for medical visit prior to a job
   
• Decision about pregnancy 

• Monitoring of the nephrology team​
   

• Subsidy of treatments by the public health system
   

• Support in school or work​
   

• Financial aid for assistive hearing devices

• Train obstetricians and pediatricians from maternity services on renal rare diseases leading to natal CKD and on tracking family history
   

   

• Early diagnosis is crucial to ensure the correct diet and to start medication when needed

• 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
   

• Psychological support will be needed to parents/family ​

   

• 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

• Accept parents requesting a second opinion/advice on the disease
  
   
• Free access via prescription to psychologists, to dietiticians, physiotherapies

• Explain the different dialysis 
   

   

• Maintain as much as possible QoL
  
   
• Psychological support mandatory

• Regular antenatal scans
   

   

• Regular antenatal scans – plan for birth made 

• Bp monitoring
   
• TPN
   
• Medication for blood pressure started
   
• Dextrose to control blood sugar levels
   
• Transferred from local hospital` to GOSH
   

• Management of bp – stabilize renal function 
   

   

• Medication
   

• Genetic counselling
   

• Surgery
   

• Double nephrectomy
   

• Tube feeding to maintain good calorie intake
   

• Regular blood pressure monitoring
   

• Tomaintain healthy blood sugar levels
   

• To slow down progression of renal disease
   

• To manage symptoms of renal failure
   

• Psychology support
   

• Improved quality of life
   

• Reduction of medication
   

• Avoiding dialysis
   

• Requires second renal transplant within the next 12-18 months

  
   

   

• Improved quality of life
   
• Avoiding dialysis
   
• Reduction of medication
   
• Regular check ups
   
• Psychological input and support 

• Support in school & work
  
   

• Treatments (potassium and magnesium)
   

   

• Support in school​
  
   
• Granting treatments when necessary

• Study and genetic counselling
   

• Psychological support. Treatments (potassium and magnesium and sometimes diuretic) ​
   

• Patient education: information on how to prevent aggravation

• Granting treatments when necessary
  
   
• Increased awareness among healthcare professionals in about the rare disorder through even more knowledge sharing
  
   
• Perform genetic study
  
   
• Include psychological support
  
   
• Subsidy of treatments by the public health system

• Potassium treatment & control

   

• Monitoring of the nephrology team

• Magnesium treatment & control

   

• Subsidy of treatments by the public health system.
   

• Support in school or work
   

• Potassium and/or Magnesium treatment & control
   

• Support in school or work
   

• Patient education: information on how to prevent aggravation.

  
   

   

• Monitoring of the nephrology team
   

•  Subsidy of treatments by the public health system
   

• Support in school or work​
   

• Help from other patients
   

• For instance: social media support groups

• Train obstetricians and pediatricians from maternity services on renal rare diseases leading to natal CKD and on tracking family history
   

   

→ In the event of a relapse 

• Oedema management by reduction of salt intake
   

• reduction of daily drinking quantity may be discussed

  Warning: in the event of fever, abdominal pain (peritonitis), cold feet or malaise, seek emergency medical attention. An albumin infusion may be necessary to improvetolerance of the relapse.

→ Psychological repercussions 

• Parents/caregivers and the child need support at diagnosis (due to the high psychological burden of first-line treatment) and during relapses
   

• Get in touch with self-help organizations and share your experiences! A personal contact to other patients, as well as information leaflets on Nephrotic Syndrome help to reduceunderstandable anxiety. (national self-help structures, can be found at:  www.erknet.org/patients)

• Contact with a specialistservice is necessary if there is no response after 1 month of initial treatment or if there are frequent relapses

Parents as co-therapists: 

• Taking medication regularly, frequent urine control by dipstick - initial daily (weight variations are an indicator of oedema); -Adjustment of diet according to the dose of corticoids -data entry into booklet/file
   

• If urine dipstick on 3 days in a row shows ++ or more (relapse) contact paediatrician / nephrology center

• Early detection of relapse can allow outpatient treatment and prevents complications (thrombosis, infections)
   

• Participation in national modular training programmes recommended

• Always discuss with the doctor efforts to stabilise the child holistically (manual therapies, nutrition, micronutrient status, infection prevention)

Vaccinations (inactivated) protect against certain infections. However, they can trigger a relapse. Seek advice on this topic.

• 80–90% of steroid-sensitive children avoid renal failure and dialysis
  
   
• 60–80% experience multiple relapses
  
   
• 15–25% relapse in adulthood

→ In steroid-resistant cases, kidney biopsy and genetic testing are essential for diagnosis

• Immune-mediated forms: If treatment fails, there is a risk of kidney failure, dialysis, and disease recurrence after transplantation
   
• Genetic forms: Do not respond to immunosuppression but typically do not recur after transplantatio

In genetic forms, corticosteroids and immunosuppressive treatments should be suspended as they can lead to complications, particularly infectious ones, with no expected benefit. Exclude Alport Syndrome if no response! Toxicity of steroids and immunosuppressors would cause lasting damage to the kidney.