History and exam
Key diagnostic factors
common
presence of risk factors
Key risk factors strongly associated with medullary sponge kidney include, hemi-hypertrophy, Beckwith-Wiedemann's syndrome, Caroli's disease, congenital hepatic fibrosis, Ehlers-Danlos' syndrome, family history of polycystic kidney disease, and chronic kidney disease.
Other diagnostic factors
common
previous nephrolithiasis
flank pain
Patients may present with flank pain from nephrolithiasis or pyelonephritis due to infected stones. Some patients have chronic severe pain.
haematuria
Microscopic or gross haematuria is commonly found.
May be due to nephrolithiasis or infection.
costovertebral angle tenderness
May be due to nephrolithiasis or pyelonephritis.
dysuria
Patients with medullary sponge kidney often have history of recurrent urinary tract infections (UTIs).
May present with symptoms of UTI such as painful urination.
urinary urgency
Patients with medullary sponge kidney often have history of recurrent urinary tract infections (UTIs).
May present with symptoms of UTI such as urinary urgency.
increased frequency of urination
Patients with medullary sponge kidney often have history of recurrent urinary tract infections (UTIs).
May present with symptoms of UTI such as increased frequency of urination.
uncommon
groin pain
As stones pass through the ureter, pain may radiate towards the groin.
Risk factors
strong
hemi-hypertrophy
Medullary sponge kidney may occur with congenital defects such as hemi-hypertrophy (enlargement of one side of the body).
Beckwith-Wiedemann's syndrome
Medullary sponge kidney may occur with other congenital defects such as Beckwith-Wiedemann's syndrome (congenital overgrowth).
Caroli's disease
Medullary sponge kidney may occur with other congenital defects such as Caroli's disease (fibropolycystic liver disease).
congenital hepatic fibrosis
Medullary sponge kidney may occur with other congenital defects such as congenital hepatic fibrosis.
Ehlers-Danlos' syndrome
Medullary sponge kidney may occur with other congenital defects such as Ehlers-Danlos' syndrome (connective tissue disorder).
family history of polycystic kidney disease
Medullary sponge kidney may occur with other congenital defects such as autosomal-dominant polycystic kidney disease.
chronic kidney disease
Medullary sponge kidney may occur with kidney disease thought to be due to recurrent and/or infected stones.
weak
hypercalciuria
female sex
Some studies have suggested Medullary sponge kidney is more common in women, whereas others have found no difference between the sexes.[11]
hyperparathyroidism
Medullary sponge kidney (MSK) may be associated with primary hyperparathyroidism.[4] However, the hyperparathyroidism seems to follow MSK.
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