Referral to National Highly Specialised Care (NHV) in rare kidney diseases

Referrals for children with suspected rare kidney disease should be sent to the following address:

Njur- och urinvägsmottagningen för barn och ungdom  
Akademiska barnsjukhuset, ingång 95-96  
751 85 Uppsala  

Please contact the paediatric telephone consultant before making a referral or for advice.  

For emergencies, please contact the paediatric nephrology telephone consultant via the switchboard, 018-611 00 00 (weekdays and weekends at 8am-9pm) and the on-call paediatric consultant at other times.  

Referrals for adults with rare kidney disease should be sent to: 
Njur- och PD-mottagningen  
Akademiska sjukhuset, ingång 78 bv  
751 85 Uppsala  

Scope of the licence

The paediatric and adult renal services have a well-established collaboration around patients to make highly specialised care, including the transition between paediatric and adult care, smooth and safe. The licence is valid from 1 September 2025 until further notice.

For children, the NHV licence includes assessment and care when renal replacement therapy is imminent, initiation and overall responsibility for long-term dialysis treatment, assessment and further investigation of suspected severe kidney disease, and establishment of a treatment and follow-up plan when severe kidney disease is diagnosed. Care also includes assessing and deciding whether to start or stop certain advanced treatments and following-up the treatment.  

For adults, the NHV licence includes the assessment of patients with established severe kidney disease and the investigation before and decision to start and stop certain advanced therapies, as well as the follow-up of treatment monitoring.  

Working methods and diagnoses

Care is provided through multidisciplinary collaboration between paediatric and adult renal specialists, neonatal care, intensive care, surgery, dialysis, laboratory and radiology services and clinical genetics. Shared care, the hospital's model of continuous collaboration with guardians and local hospital care teams, allows the same high quality care to be offered wherever the child lives in the country.  

In severe renal disease with impaired kidney function, close monitoring, correction of electrolyte and fluid therapy, blood pressure monitoring and renal replacement therapy, such as haemodialysis or peritoneal dialysis, are required. Patients who need a kidney transplant are assessed before and followed up after surgery.  

Rare kidney disease in children  

All children with severe kidney disease, where the disease has progressed to the point where kidney replacement therapy (chronic dialysis or kidney transplantation) will soon be needed, should be referred to an NHV for assessment prior to the start of treatment, such as transplantation assessment.  

Examples of diagnoses covered by the NHV:  

• Rare stone diseases such as cystinuria, xantinuria, APRT deficiency.
• Severe tubulopathies such as Bartter, hereditary nephrogenic diabetes insipidus.
• Some complement-mediated kidney diseases such as genetic C3 glomerulopathy, aHUS.
• Some metabolic diseases with kidney involvement such as primary hyperoxaluria, cystinosis, Cobalamin-C methylmalonic acidemia.
• IgA (HSP) vasculitis with renal involvement.
• Vasculitis and other inflammatory system diseases with kidney involvement.  
• Renal impairment in infants with bilateral congenital anomalies of the kidney (CAKUT).
• Therapy-resistant hypertension (stage II).  

Rare kidney disease in adults  

The NHV must offer a physical visit when assessing adult patients, but if the conditions exist regionally, it can be decided in consultation that the patient does not have to come to the NHV.  

Examples of diagnoses covered by the NHV:  

• Rare stone diseases such as cystinuria, xantinuria, APRT deficiency.
• Severe tubulopathies such as Bartter, hereditary nephrogenic diabetes insipidus.
• Some complement-mediated kidney diseases such as genetically caused C3 glomerulopathies, aHUS.
• Some metabolic diseases with kidney involvement such as primary hyperoxaluria, cystinosis, Cobalamin-C methylmalonic acidemia.  

Quality monitoring, research and training 

Treatment outcomes are evaluated through continuous registration in the Swedish Paediatric Kidney Register and the Swedish Kidney Register.  

Research and Education (R&E) is a natural and important part of rare kidney diseases and advanced kidney care. Patients are invited to participate in research projects to improve future care and diagnostics.

Education is an integral part of healthcare, which means that patients are cared for not only by doctors, nurses and other healthcare professionals, but also by undergraduate and postgraduate students.  

Related information on external websites

Renal Medicine – Department of Medical Sciences – Uppsala University