Renal 2 Flashcards
what is an epididymal cyst?
a common cause of scrotal swelling
smooth, extratesticular, spherical cysts in the head of the epididymis
they are benign and do not usually require treatment
how does an epididymal cyst present?
- small cysts which are separate from the testical
- patient usually present having noticed a lump
- often multiple and may be bilateral
what investigations would you perform for epididymal cysts?
scrotal USS will assist the diagnosis if there is any uncertainty
how are epididymal cysts managed?
usually treatment is not necessary
surgical excision if they become painful or suddenly start increasing in size.
what is epididymo orchitis?
Epididymo-orchitis describes an infection of the epididymis +/- testes resulting in pain and swelling. It is most commonly caused by local spread of infections from the genital tract (such as Chlamydia trachomatis and Neisseria gonorrhoeae) or the bladder.
*** The most important differential diagnosis is testicular torsion. This needs to be excluded urgently to prevent ischaemia of the testicle.
what are features of epididymo-orchitis?
unilateral testicular pain and swelling
urethral discharge may be present, but urethritis is often asymptomatic
factors suggesting testicular torsion include patients < 20 years, severe pain and an acute onset
what is a hydrocele?
A hydrocele describes the accumulation of fluid within the tunica vaginalis (the layers of membrane which surrounds the testis or along the spermatic cord) .
hey can be divided into communicating and non-communicating:
communicating: caused by patency of the processus vaginalis allowing peritoneal fluid to drain down into the scrotum.
> Communicating hydroceles are common in newborn males (clinically apparent in 5-10%) and usually resolve within the first few months of life
> non-communicating: caused by excessive fluid production within the tunica vaginalis
what may hydrocele develop secondary to?
epididymo-orchitis
testicular torsion
testicular tumours
what are the features of hydrocele?
soft, non-tender swelling of the hemi-scrotum. Usually anterior to and below the testicle
the swelling is confined to the scrotum, you can get ‘above’ the mass on examination
transilluminates with a pen torch
the testis may be difficult to palpate if the hydrocele is large
how do you manage hydrocele?
infantile hydroceles are generally repaired if they do not resolve spontaneously by the age of 1-2 years
in adults a conservative approach may be taken depending on the severity of the presentation. Further investigation (e.g. ultrasound) is usually warranted however to exclude any underlying cause such as a tumour
what conditions are epididymal cysts associated with?
polycystic kidney disease
cystic fibrosis
von Hippel-Lindau syndrome
what is a varicocele?
An abnormal dilation of the internal spermatic veins and pampiniform plexus that drain blood from the testis.
Majority of cases occur on the left side
how does a varicocele present?
often will present with subfertility
scrotal mass often described as a bag of worms
what investigations would you perform for varicocele?
usually a clinical diagnosis
scrotal USS with colour flow doppler imaging
how is a varicocele managed?
if small - reassurance and observation
if larger or pain - surgery
what is testicular torsion?
twist of the spermatic cord resulting in testicular ischaemia and necrosis.
most common in males aged between 10 and 30 (peak incidence 13-15 years)
**medical emergency
how does testicular torsion present?
pain is usually severe and of sudden onset
the pain may be referred to the lower abdomen
nausea and vomiting may be present
on examination, there is usually a swollen, tender testis retracted upwards. The skin may be reddened
cremasteric reflex is lost
elevation of the testis does not ease the pain (Prehn’s sign)
what investigations would you perform fort testicular torsion?
grey-scale USS
doppler USS
how is testicular torsion managed?
treatment is with urgent surgical exploration
if a torted testis is identified then both testis should be fixed as the condition of bell clapper testis is often bilateral.
what is benign prostatic hyperplasia?
This is a very common benign condition in men of increasing age. It is caused by hyperplasia of the stromal and epithelial cells of the prostate. It usually presents with lower urinary tract symptoms in older men.
how do men with benign prostatic hyperplasia present?
Lower Urinary Tract Symptoms (LUTS) Hesitancy Urgency Frequency Intermittency Straining to void Terminal dribbling Incomplete emptying
what investigations would you perform for benign prostatic hyperplasia?
Urine analysis (exclude infection as a major differential) PSA done prior to rectal examination can help with assessing potential for prostate cancer Rectal exam to assess prostate size, shape and characteristics international prostate symptom score
how is benign prostatic hyperplasia managed?
Reassurance and monitoring if manageable symptoms
Medications
Alpha-blockers (relax smooth muscle; e.g. tamsulosin 400 mcg once daily)
5-alpha reductase inhibitors (block testosterone and actually help reduce the size of the prostate; e.g. finasteride)
Surgery
Transurethral resection of the prostate (TURP)
Transurethral electrovaporisation of the prostate (TUVP)
Holmium laser enucleation of the prostate (HoLEP)
Open prostatectomy via abdominal or perineal incision
what is TURP?
Transurethral Resection of the Prostate (TURP)
Involves accessing the prostate through the urethra and “shaving” off prostate tissue from inside using diathermy
The aim is to create a wider space for urine to flow through, thereby improving symptoms
Major complications: Bleeding, Infection, Incontinence. Retrograde ejaculation (semen goes backwards and is not produced from the urethra during ejaculation), Urethral strictures, Failure to resolve symptoms, Erectile dysfunction
Alternatives (similar to TURP but different methods for removing prostate tissue)
> TUVP – prostate tissue is removed using a laser
> HoLEP – prostate tissue is removed using an electrical current
what is renal tubular acidosis?
Renal tubular acidosis is where there is a metabolic acidosis due to pathology in the tubules of the kidney. The tubules are responsible for balancing the hydrogen and bicarbonate ions between the blood and urine and maintaining a normal pH. There are four types each with different pathophysiology.
what are the different types of renal tubular acidosis ?
Type 1 RTA (distal)
> inability to generate acid urine (secrete H+) in distal tubule
> causes hypokalaemia
> complications include nephrocalcinosis and renal stones
> causes include idiopathic, rheumatoid arthritis, SLE, Sjogren’s, amphotericin B toxicity, analgesic nephropathy
Type 2 RTA (proximal)
> decreased HCO3- reabsorption in proximal tubule
> causes hypokalaemia
> complications include osteomalacia
> causes include idiopathic, as part of Fanconi syndrome, Wilson’s disease, cystinosis, outdated tetracyclines, carbonic anhydrase inhibitors (acetazolamide, topiramate)
Type 3 RTA (mixed)
> extremely rare
> caused by carbonic anhydrase II deficiency
> results in hypokalaemia
Type 4 RTA (hyperkalaemic)
> reduction in aldosterone leads in turn to > a reduction in proximal tubular ammonium excretion
> causes hyperkalaemia
> causes include hypoaldosteronism, diabetes
Types 1 and 4 most likely to come up in ecam
what investigations would you perform for renal tubular acidosis?
serum bicarb serum chloride serum sodium serum potassium ABG uring pH
how is renal tubular acidosis managed?
type 1 (distal):
- sodium alkali or potassium containing alkali solution
- potassium supplementation
Type 2 (proximal - e.g. fanconi syndrome):
- sodium alkali
- potassium supplementation
- hydrochlorothiazide
type 3 - rare probs wont need to treat
type 4
- loop diuretic and potassium restriction and increased salt diet
- sodium alkali therapy
what is CKD?
Chronic kidney disease describes a chronic reduction in kidney function. This reduction in kidney function tends to be permanent and progressive.
what are some causes of CKD?
Diabetes Hypertension Age-related decline Glomerulonephritis Polycystic kidney disease Medications such as NSAIDS, proton pump inhibitors and lithium
risk factors for CKD?
Older age Hypertension Diabetes Smoking Use of medications that affect the kidneys
how does CKD present?
Usually chronic kidney disease is asymptomatic and diagnosed on routine testing. A number of signs and symptoms might suggest chronic kidney disease: Pruritus (itching) Loss of appetite Nausea Oedema Muscle cramps Peripheral neuropathy Pallor Hypertension
what investigations should you perform for CKD?
Estimated glomerular filtration rate (eGFR) can be checked using a U&E blood test. Two tests are required 3 months apart to confirm a diagnosis of chronic kidney disease.
Proteinuria can be checked using a urine albumin:creatinine ratio (ACR). A result of ≥ 3mg/mmol is significant.
Haematuria can be checked using a urine dipstick. A significant result is 1+ of blood. Haematuria should prompt investigation for malignancy (i.e. bladder cancer).
Renal ultrasound can be used to investigate patients with accelerated CKD, haematuria, family history of polycystic kidney disease or evidence of obstruction.
what are the stages of CKD?
The G score is based on the eGFR:
G1 = eGFR >90 G2 = eGFR 60-89 G3a = eGFR 45-59 G3b = eGFR 30-44 G4 = eGFR 15-29 G5 = eGFR <15 (known as “end-stage renal failure”)
The A score is based on the albumin:creatinine ratio:
A1 = < 3mg/mmol
A2 = 3 – 30mg/mmol
A3 = > 30mg/mmol
The patient does not have CKD if they have a score of A1 combined with G1 or G2. They need at least an eGFR of < 60 or proteinuria for a diagnosis of CKD.
what are the complications of CKD?
Anaemia Renal bone disease Cardiovascular disease Peripheral neuropathy Dialysis related problems
how is CKD managed?
AIMS of management
slow the progression of the disease (diabetic and hypertensive control)
Reduce the risk of cardiovascular disease and reduce risk of complciations (exercise, stop smoking, atorvastatin 20mg)
Treating complications (sodium bicarb to treat metabolic acidosis, iron and EPO to treat anaemia, VD for bone disease, dialysis for end stage)
how should hypertension be managed in CKD?
ACE inhibitors are the first line in patients with chronic kidney disease
Serum potassium needs to be monitored as chronic kidney disease and ACE inhibitors both cause hyperkalaemia
what are the features of renal bone disease?
Osteomalacia (softening of bones)
Osteoporosis (brittle bones)
Osteosclerosis (hardening of bones)
what x-ray changes do you get in renal bone disease?
Spine xray shows sclerosis of both ends of the vertebra (denser white) and osteomalacia in the centre of the vertebra (less white). This is classically known as “rugger jersey” spine after the stripes found on a rugby shirt.
how is renal bone disease managed?
Active forms of vitamin D (alfacalcidol and calcitriol)
Low phosphate diet
Bisphosphonates can be used to treat osteoporosis
why do people with CKD get bone disease?
Basic problems in chronic kidney disease (CKD):
1-alpha hydroxylation normally occurs in the kidneys → CKD leads to low vitamin D
the kidneys normally excrete phosphate → CKD leads to high phosphate
This, in turn, causes other problems:
the high phosphate level ‘drags’ calcium from the bones, resulting in osteomalacia
low calcium: due to lack of vitamin D, high phosphate
secondary hyperparathyroidism: due to low calcium, high phosphate and low vitamin D
what is dialysis?
Dialysis is a method for performing the filtration tasks of the kidneys artificially in patients with end stage renal failure or complications of renal failure. It involves removing excess fluid, solutes and waste products.
what are indications for acute and long term dialysis?
Indications for Acute Dialysis
The mnemonic is AEIOU can be used to remember the indications for acute dialysis in patients with a severe AKI:
A – Acidosis (severe and not responding to treatment)
E – Electrolyte abnormalities (severe and unresponsive hyperkalaemia)
I – Intoxication (overdose of certain medications)
O – Oedema (severe and unresponsive pulmonary oedema)
U – Uraemia symptoms such as seizures or reduced consciousness
Indications for Long Term Dialysis
End stage renal failure (CKD stage 5)
Any of the acute indications continuing long term
what are the different options for maintenance dialysis
Continuous Ambulatory Peritoneal Dialysis
Automated Peritoneal Dialysis
Haemodialysis
what is peritoneal dialysis?
Peritoneal dialysis uses the peritoneal membrane as the filtration membrane. A special dialysis solution containing dextrose is added to peritoneal cavity. Ultrafiltration occurs from the blood, across the peritoneal membrane, in to the dialysis solution. The dialysis solution is then replaced, taking away the waste products that have filtered out of the blood into the solution.
Continuous Ambulatory Peritoneal Dialysis
This is where the dialysis solution is in the peritoneum at all times. There are various regimes for changing the solution. One example is where 2 litres of fluid is inserted into the peritoneum and changed four times a day.
Automated Dialysis
This involves peritoneal dialysis occurring overnight. A machine continuously replaces dialysis fluid in the abdomen overnight to optimise ultrafiltration. It takes 8-10 hours.
what are the complications of peritoneal dialysis
bacterial peritonitis peritoneal sclerosis ultrafiltration failure weight gain psychosocial effects
what is hemodialysis?
With haemodialysis, patients have their blood filtered by a haemodialysis machine. Regimes can vary but a typical regime might be 4 hours a day for 3 days a week.
They need good access to an abundant blood supply. The options for this are:
Tunnelled cuffed catheter
Arterio-venous fistula
what is tunneled cuffed cathater?
A tunnelled cuffed catheter is a tube inserted into the subclavian or jugular vein with a tip that sits in the superior vena cava or right atrium. It has two lumens, one where blood exits the body (red) and one where blood enters the body (blue).
what is an AV fistula?
connection between and artery and a vein
bypasses the capillary system and allows blood to flow under high pressure from the artery directly into the vein. This provides a permanent, large, easy access blood vessel with high pressure arterial blood flow
They are typically formed between an artery and vein in the patient’s forearm:
Radio-cephalic
Brachio-cephalic
Brachio-basilic (less common and more complex operation)
how should you examine and AV fistula?
Skin integrity
Aneurysms
Palpable thrill (a fine vibration felt over the anastomosis)
Stereotypical “machinery murmur” on auscultation
what are the complications of an AV fistula?
Aneurysm Infection Thrombosis Stenosis STEAL syndrome High output heart failure
STEAL syndrome is where there is inadequate blood flow to the limb distal to the AV fistula. The AV fistula “steals” blood from the distal limb. The blood is diverted away from where is was supposed to supply and flows straight into the venous system. This causes distal ischaemia.
what is the most common renal cancer in adults?
renal cell carcinoma (accounts for 80% of neoplasms arising from the kidney)
most RCC are clear cell
other types of RCC are papillary, chromophobe and collecting duct carcinoma
what are the different histological types of renal tumours?
Transitional cell carcinoma.
Renal oncocytoma.
Wilms’ tumour - most common tumour in children
Angiomyolipoma - commonly seen in patients with tuberous sclerosis.
Leiyomyosarcoma.
Sarcoma.
Adenoma - frequently found as an incidental finding at post-mortem; if diagnosed during life, it is treated with partial nephrectomy, due to histological similarity to adenocarcinoma.
risk factors for renal cancer?
smoking obesity hypertension long term dialysis tuberous sclerosis renal transplant recipients renal cystic disease
associated with von hipple-lindau syndrome
how does renal carcinoma present?
triad of haematuria, loin pain, abdominal mass
pyrexia
left varicocele
endocrine effects - may secrete erythropoietin (polycythaemia), parathyroid hormone (hypercalcaemia), renin, ACTH
25% have mets at presentations
where does renal cancer usually spread to?
adjacent structures - adrenal glands, liver, spleen, colon, pancreas, lungs, local lymph nodes are often involved
if it spreads to bone it will produce osteolytic lesions
what investigations would you perform for renal cancer?
urinalysis, cytology, culture and sensitivity
renal function tests
FBC (may detect iron deficiency or polycythaemia)
CT scanning
cystoscopy
how is renal cancer staged?
TNM system
how is renal cancer managed?
for confined disease a partial or total nephrectomy depending on the tumour size
alpha-interferon and interleukin-2 have been used to reduce tumour size and also treat patients with metatases
receptor tyrosine kinase inhibitors (e.g. sorafenib, sunitinib) have been shown to have superior efficacy compared to interferon-alpha
what are the risk factors for bladder cancer?
increasing age
smoking
occupational exposure to aromatic amine, polycyclic aromatic hydrocarbons and chlorinated hydrocarbons
dyes, paints, solvents, leather dust, inks, combustion products, rubber, textiles
radiation to pelvis
squamous cell tumours usually follow chronic inflammation from stones or indwelling catheters
how does bladder cancer present?
painless haematuria
advanced disease may cause voiding symptoms
what are the different types of bladder cancer?
Transitional cell carcinoma (>90% of cases)
Squamous cell carcinoma ( 1-7% -except in regions affected by schistosomiasis)
Adenocarcinoma (2%)
Cancer arising from the transitional cells of the mucosal urothelium may present as a non-invasive, papillary tumour protruding from the mucosal surface, or as a solid, non-papillary tumour that invades the bladder wall and has a high propensity for metastasis. The non-papillary tumours originate from in situ dysplasia
differentials for bladder cancer?
Haemorrhagic cystitis Nephrolithiasis Renal cancer Urethral trauma UTI
what investigations are performed for suspected bladder cancer?
urinalysis including culture - exclude infection FBC - look for anaemia renal function tests and electrolytes urine cytology CT or MRI cystoscopy
how are bladder cancers staged?
Most will undergo a cystoscopy and biopsies or TURBT, this provides histological diagnosis and information relating to depth of invasion. Locoregional spread is best determined using pelvic MRI and distant disease CT scanning. Nodes of uncertain significance may be investigated using PET CT.
what are the different types of testicular tumours?
Germ cell tumours:
- seminomas (peak incidence 35 years)
- teratomas (peak incidence 25)
- yolk sac tumours
non-germ cell tumours:
- Leydig tumours
- sarcomas
what are risk factors for testicular cancer?
cryptorchidism or testicular maldescent male infertility klinefelter's syndrome family history low birth weight infantile hernia taller men are more at risk of developing germ cell tumours mumps orchitis
what are the symptoms and signs of testicular cancer?
a lump in the body of the testis (usually painless)
there may be testicular pain and/or abdominal pain
dragging sensation
hydrocele
gynaecomastia from beta-hCG production
Metastasis - seminomas metastasise to para-aortic nodes and produce back pain; teratomas undergo blood-borne spread to the liver, lung, bone and brain.
what investigations would you perform for testicular cancer?
diagnosis is usually confirmed by USS
(USS with colour doppler)
CXR to look for mets
CT abdo pelvis
serum b-HCG - will be elevated in choriocarcinoma
serum AFP - Can be elevated by embryonal carcinoma, teratoma, yolk sac tumours, or combined tumours.
how is testicular cancer staged?
royal marsden staging of testicular tumours
how is testicular cancer managed?
a radical orchidectomy should be performed
a testicular prosthesis should be offered
if there are mets - chemotherapy should be offered
what are the risk factors for prostate cancer?
increasing age family history black african-caribbean tall anabolic steroids
how does prostate cancer present?
usually presents similar to benign prostatic hyperplasia - nocturia, urinary frequency, urinary hesitancy, dysuria haematuria erectile dysfunction weight loss fatigue bone pain
what investigations would you perform for suspected prostate cancer ?
rectal examination PSA - may be raised for a number of different reasons postate biopsy bone scans - looking for bone mets pelvic CT scan
what score is used to grade prostate cancer?
Gleason score
It estimates the grade of prostate cancer according to its differentiation.
TNM is used for staging
what is the most common type of prostate cancer
adenocarcinoma
how is prostate cancer managed?
watch and wait if elderly and low gleason score
radiotherapy
surgery - radical prostatectomy
hormonal therapy
what is pyelonephritis?
infection in the renal parenchyma, calices and pelvis, that can be acute, recurrent or chronic.
it is caused by ascending infection from the lower urinary tract however it may also be due to bloodstream spread of infection.
what is the most common causative organism of acute pyelonephritis?
E.coli
what are the symptoms of pyelonephritis?
Fever is a more prominent feature than lower urinary tract infections.
Loin, suprapubic or back pain. This may be bilateral or unilateral.
Looking and feeling generally unwell
Vomiting
Loss of appetite
Haematuria
Renal angle tenderness on examination
what investigations would you perform for pyelonephritis?
URINALYSIS (+VE for leukocytes and nitrites, non-visable haematuria (although rare in acute pyelonephritis, WBC casts)
urine culture and sensitivity (should be midstream)
FBC (leukocytosis present in acute infection)
ESR and CRP
U&E’s to assess kidney function
creatinine to assess kidney function
blood cultures if hospital admission required
why are nitrites present in urine of someone with UTI?
Nitrites – gram negative bacteria (such as E. coli) breakdown nitrates, a normal waste product in urine, into nitrites. The presence of nitrites suggest bacteria presence.
how is pyelonephritis managed?
non-pregnant:
1st line - cefalexin or ciprofloxacin
if sensitivity known - co-amoxiclav or trimethoprim
if pregnant
1st line: cefalexin
causes of UTIs?
E. coli Klebsiella pneumoniae (gram-negative anaerobic rod) Enterococcus Pseudomonas aeruginosa Staphylococcus saprophyticus Candida albicans (fungal)
what is cystitis?
Acute cystitis is an infection of the urinary bladder most commonly affecting young, sexually active women.
it is lower urinary tract infection
how does cystitis usually present?
Dysuria (pain, stinging or burning when passing urine)
Suprapubic pain or discomfort
Frequency
Urgency
Incontinence
Confusion is commonly the only symptom in older more frail patients
what investigations would you perform for cystitis?
urinalysis (positive for leukocyte esterase, nitrites and Hb)
urine microscopy
urine culture with sensitivity
how is cystitis managed?
not pregnant :
- nitrofurantoin
- trimethoprim
Pregnant:
- nitrofurantoin
what is prostatitis?
Acute prostatitis is a painful inflammation within the prostate that is usually accompanied by evidence of recent or ongoing infection.
ypically caused by gram-negative bacteria entering the prostate gland via the urethra.
Escherichia coli is the most commonly isolated pathogen.
what are the symptoms of prostatitis?
fever
chills
malaise
tender prostate
how is prostatitis managed?
consider screening for STI
ciproloxacin
what investigations of prostatitis?
urinalysis
urine culture
blood culture
PSA
what is urethritis?
Urethritis is usually a sexually transmitted disease that typically presents with dysuria, urethral discharge, and/or pruritus at the end of the urethra. Urethral discharge is the classic physical finding.
what are the most common causes of urethritis?
The 2 most important aetiological agents are Neisseria gonorrhoeae and Chlamydia trachomatis.
what are the features of urethritis?
urethral discharge
urethral irritation or itching
dysuria
what investigations for urethritis?
gram stain and culture of discharge
NAAT - to look for chlamydia or gonorrhoea
what is diabetic nephropathy?
Diabetic nephropathy is the most common cause of glomerular pathology and chronic kidney disease in the UK. The chronic high level of glucose passing through the glomerulus causes scarring. This is called glomerulosclerosis.
Proteinuria is a key feature of diabetic nephropathy. This is due to damage to the glomerulus allowing protein to be filtered from blood to urine.
Patients with diabetes should have regular screening for diabetic nephropathy by testing the albumin:creatinine ratio and U&Es.
how is diabetic nephropathy managed?
Treatment is by optimising blood sugar levels and blood pressure.
ACE inhibitors are the treatment of choice in diabetics for blood pressure control. They should be started in patients with diabetic nephropathy even if they have a normal blood pressure.
what is rhabdomyloysis?
Rhabdomyolysis may result from any traumatic or medical injury to the sarcolemma (the myocyte cell membrane) of the skeletal muscle cells. The subsequent release of intracellular ions, myoglobin, creatine kinase (CK), and urates into the circulation results in electrolyte disturbances, acidaemia, disseminated intravascular coagulation, renal failure, and multi-organ failure.
what are the features of rhabdomyolysis?
acute kidney injury with disproportionately raised creatinine
elevated creatine kinase (CK)
myoglobinuria
hypocalcaemia (myoglobin binds calcium)
elevated phosphate (released from myocytes)
hyperkalaemia (may develop before renal failure)
metabolic acidosis
what can cause rhabdomyolysis?
seizures collapse/coma ecstacy crush injury McArdle's syndrome drugs - statins especially if co-prescribed with clarithromycin
what investigations would you want to perform for rhabdomyolysis?
serum creatine kinase - increased to at least 5 times normal U&E's - elevated urea, creatinine, potassium, magnesium and phosphate. Low calcium LFTs FBC coagulation studies urine dipstick urine microscopy myoglobin levels
how would you manage rhabdomyolysis?
- hydrations therapy - IV fluids to maintain urine output
- urinary alkalinization
if unresponsive to hydration therapy they will need haemodialysis
what is fanconi syndrome?
Fanconi syndrome describes a generalised reabsorptive disorder of renal tubular transport in the proximal convoluted tubule (it doesn’t affect other nephron segments)
what does fanconi syndrome lead to?
type 2 (proximal) renal tubular acidosis polyuria aminoaciduria glycosuria phosphaturia osteomalacia
what can cause renal fanconi syndrome?
inherited (primary idiopathic (AD), secondary - wilson’s disease, lowe’s disease, tyrosinaemia etc)
acquired
- intrinsic renal disease (acute tubular necrosis, interstitial nephritis, hypokalaemia nephropathy, myeloma, amyloidosis, sjogren’s syndrome)
- hyperparathyroidism
- drugs - e.g. cisplatin, isofamide, tenofovir, sodium valproate
- toxins - glue sniffing, heavy metals, bee stings
how does renal fanconi syndrome present?
Polyuria, polydipsia and episodes of dehydration (sometimes associated with fever).
Bone deformities: rickets in children or osteomalacia in adults. Result from excessive urinary losses of calcium and phosphate and of a defect in the hydroxylation of 25-hydroxyvitamin D3 into 1,25-dihydroxyvitamin D3.
Impaired growth and failure to thrive.
what investigations would you perform for fanconi syndrome?
> The diagnosis is based on excessive loss of substances in the urine (eg, amino acids, glucose, phosphate, bicarbonate) in the absence of high plasma concentrations.
Further investigations are required to identify the cause.
Proteinuria: usually, however, only in small quantities.
Hypokalaemia, hypophosphataemia and hyperchloraemic metabolic acidosis.
how is fanconi syndrome managed?
- treat underlying cuase
- ensure adequate fluid intake
- give sodium bicarb to correct metabolic acidosis
- thiazide diuretic to avoid volume expansion (however it will increase potassium loss)
- phosphate and VD required for bone disease
