Nephrology and Dialysis

Ospedale San Raffaele

key figures 

CLINICAL SERVICES:

  • Renal replacement treatments (Haemodialysis and peritoneal dialysis)
  • End stage renal failure (acute and chronic)
  • Kidney Stones
  • Hypertension
  • Diabetic Nephropathy
  • Renal artery stenosis
  • Polycystic kidney disease
  • Gene sampling and examination
  • Rare tubular and electrolyte disorders 
  • Glomerulonephritis

PROCEDURES PERFORMED PER YEAR:

  • 240 ordinary hospitalization of Nephrology
  • 15,000 dialysis treatments performed both on outpatients and internal patients
  • 1000 continuous renal replacement treatments (CRRT) performed on intensive care patients
  • 50 renal biopsies performed on patients with acute renal failure, chronic renal failure, nephrotic syndromes
  • Daily outpatient activity (approximately 3400 visits a year) and expertise in the investigation and management of patients with different nephrology pathologies (clinical nephrology, kidney stones, pre-dialysis, diabetic nephropathy, biopsy follow up, hypertension, polycystic kidney, renal artery stenosis)
  • 2000 round-the-clock blood pressure measurements

The Unit deals with diagnosing and treating kidney diseases. The scientific activity carried out by clinical researchers of the nephrology and dialysis Unit tries to identify the relationship between the patient's genetic characteristics and their pathology.

Genetics, associated with the clinical-instrumental observation of the patient, is providing considerable support to the daily clinical practice.

In fact, a long experience based on both approaches has unequivocally demonstrated that in individual patients the same cause can produce different severity and disease characteristics (from total absence of symptoms to an accelerated and devastating disease) or a different response to drugs. This variability is due to the interaction between the patient's genotype and the environment. Hence the need for a personalized therapy.

 

treatmentS

International scientific collaborations focusing on the progression of renal failure towards dialysis and other kidney diseases are ongoing. In particular:

Genetics of Arterial Hypertension

In recent years, many genes involved in the control of blood pressure have been identified that have led to considering this pathology of a family nature. Essential arterial hypertension is, therefore, a multifactorial disease caused by predisposing genetic factors and triggering environmental factors.

The San Raffaele hypertension clinic aims to characterize the hypertensive patient as much as possible in order to personalize the therapy and thus obtain the best results also in terms of reduction of complications, not obtainable in all patients with the simple reduction of arterial pressure. San Raffaele’s hypertension centre is one of the most advanced research centres for this pathology with the aim of evaluating:

  1. the contribution of the genetic profile in the regulation of blood pressure. In particular, there are ongoing studies regarding the relationship between genes causing high blood pressure and salt intake or environmental factors   
  2. the relationship between genes and the response to antihypertensive therapy (not all patients respond equally to the same antihypertensive drug)
  3. the relationship between genes, blood pressure and cardiovascular complications, such as myocardial infarction and stroke

Main Pathologies Treated:

  • Arterial hypertension

Top Procedures (depending on the genetic characteristics):

  • Hydrochlorothiazide (diuretic)
  • Perindopril (ACE inhibitor)

Pharmacogenomics of Hypertension

The "traditional" antihypertensive therapy has succeeded in reducing cardiovascular complications from 20% to 30%. However, in the last 15 years they have failed to increase the percentage of hypertensive patients treated properly. The extreme heterogeneity of hypertension, taking into account the pathophysiological mechanisms, organ complications and responses to therapy, is one of the causes for this.

Studies of populations in many countries have shown that only 25% of hypertensives have normalized blood pressure through therapy. The remaining portion of hypertensive patients do not undergo any therapy because they do not know they are hypertensive or they do not want to take any therapy because of the potential side-effects. Over the past 15 years, pharmacogenomics studies have been examining the interaction of several genes with arterial hypertension, and the way gene mutations affect the response to medical therapy trying to identify the best therapy for each patient.

Main Pathologies Treated:

  • Arterial hypertension

Top Procedures:

  • Diagnostic examinations:
    • Sodium-sensitivity dietary test
    • Gene sampling and study
  • Personalised treatment pathway

Kidney Stone Disease

Kidney stones is a disease with a family distribution. The factors that predispose to its development are in fact both hereditary and dietary. Diets rich in animal protein and poor in vegetables and dairy products favour calculus, while hereditary factors are still being studied. The outpatient activity of the Unit is supported by a scientific research aiming at evaluating the epidemiological and pathogenic aspects of the calculi and some related urinary diseases, such as hypercalciuria and hypocitraturia. Epidemiological studies aim at estimating the frequency of kidney stones and urinary diseases in the Italian population. Particular emphasis is given to idiopathic hypercalciuria since patients with increased urinary calcium excretion represent about 50% of patients with kidney stones and osteoporosis. For this reason, the prevention of recurrences of kidney stones and the onset of the disease in predisposed subjects goes through an appropriate specialized approach that aims to define dietary factors and alterations of the urinary composition, capable of inducing the development of kidney stones. The knowledge of the predisposing factors allows the specialist to advise the most appropriate therapies and dietary measures to avoid the formation of the calculations.

During the visits the dietetic, family and metabolic aspects potentially related to the calculi are investigated. The need for therapy is then defined and a diet adapted to the prevention of kidney stones is set.

Main Pathologies Treated:

  • Kidney stones disease

Top Procedures:

  • Dietary and therapeutic treatment

Renal and Vascular Pathology

In the context of clinical research, the possible influence of genetic factors on the development of artery stenosis or on the frequency of restenosis is investigated. In most cases the pathology is determined by the presence of an atherosclerotic plaque and in a reduced percentage it has a fibrodisplastic origin.

Stenosis leads to reduced renal perfusion, which may result in both, arterial hypertension, and worsening of renal function in the cases where the renal artery is involved, in the presence of a functioning single kidney or when it involves the renal arteries bilaterally.

Outpatients undergo renal artery stenting, a procedure to open the renal arteries when they have become blocked due to renal artery stenosis, as shown by an angiographic test.

Main Pathologies Treated:

  • Renal artery stenosis

Top Procedures:

  • Diagnostic examinations:
    • Angiography
    • Ecocolordoppler examination
  • Transluminal angioplasty (PTRA)
  • Endovascular stent placement procedure

Polycystic Kidney Disease  

Polycystic kidney disease, or ADPKD (Autosomal Dominant Kidney Disease) is an autosomal, chronic and progressive genetic disease affecting more than 13 million people worldwide.

The disease is characterized by the presence of cysts of various sizes in both kidneys and more than 60 percent of the patients with this diagnosis show renal failure, treated with dialysis or renal transplantation.

Over the years, however, thanks to scientific research, the diagnosis, monitoring, and management of this disease have improved giving a better support to patients and their families.

Since 2007, the Unit’s outpatient specialized department, in collaboration with the medical genetics service, is investigating the genetic mutation (PKD1 and PKD2) at the base of the disease. The medical and nursing team takes care of the patient with an integrated approach taking into account clinical, psychological and family problems. The patient is followed in all phases, from the diagnosis along the whole path of illness, with specialist visits and specific examinations.

Main Pathologies treated:

  • Polycystic kidney disease

Top Procedures:

  • Baseline renal function tests
  • Urinalysis and urine culture with antibiogram
  • Evaluation of renal reserve and salt sensitivity test (where indicated)
  • 24 h monitoring of blood pressure
  • Study of kidney stones
  • Interventional and observational clinical studies
  • Clinical Psychology Service

Rare tubular and electrolyte disorders

Rare tubular and electrolyte disorders affect a small percentage of the population. In the larger proportion of patients they are hereditary disorders caused by mutations at specific genes and with early onset during patient life. These disorders may involve acid-base, sodium-potassium or calcium-phosphate metabolism. Thanks to scientific research and the collaboration with the medical genetics service and the Department of Pediatrics, the  management and prognosis of these diseases have improved giving a better support to patients and their families.

Main Pathologies treated:

  • Bartter syndrome and Gitelman (characterized by low serum potassium levels, increased serum pH and bicarbonate, and normal to low blood pressure) 
  • Hypophosphatemic rickets (characterised by low serum phosphate concentrations  with severe rickets and osteomalacia)
  • Dent disease (multiple defects of reabsorption: hyphophosphatemia, proteinuria, glicosuria, leading to kidney stones, osteomalacia, renal failure). 
  • Cystinuria (defect of the tubular reabsorption of the amino acid cystine which may form stones in urine)
  • Tubular acidosis (characterised by systemic acidosis kidney stones)

 

NOTABLE ADVANCED TECHNOLOGICAL EQUIPMENT

  • Online hemodiafiltration for dialysis patients
  • Dialysis machines
  • State-of-the-art diagnostic equipment