What additional history do you want to know?
There was no history of trauma. He had no dysuria. He had a recent "flu-like" illness. There is no family history of renal disease. One maternal uncle is deaf.
What is the differential diagnosis based upon the history?
He has a nephritic syndrome:
IgA nephropathy (also known as Berger disease)
Alport syndrome - but absence of thickening and thinning of basement membrane by electron micrscopy makes this unlikely
Vasculitis (ANCA-associated granulomatous vasculitis, SLE, polyarteritis nodosa)
Urinary tract infection - but absence of WBCs makes this unlikely
What additional laboratory tests could be ordered?
ANA - negative
ANCA - negative
Urine culture - negative
What underlying disease(s) might be present? What diagnosis would you consider if the patient had presented with petechiae and purpura of the skin?
IgA nephropathy is most often seen with onset in the 2nd and 3rd decades, more often in males, and most often in Caucasians. Since it is related to IgA derived from mucosal immunity, it has been seen in associationwith celiac disease. Respiratory tract infections may lead to increased IgA production. Persons with advanced liver disease from cirrhosis have impaired clearance of IgA containing immune complexes by hepatic Kupffer cells. Henoch-Schönlein purpura is the skin disorder associated with IgA nephropathy.
What type of study would you perform to determine the risk for developing chronic renal failure in patients with this disease, compared to persons without this disease?
In a "case control" study, one defines a population with a particular disease and then finds a suitable control group without the disease. One then compares the two using a particular risk factor for the disease. The cases and the controls may be matched for variables such as age, sex, and race, but they may be unmatched. Here is an example of an unmatched case control study comparing the risk for chronic renal failure:
Subjects with Subjects without
Berger Disease Berger disease
CRF present 10 (a) 50 (b)
CRF not present 10 (c) 1750 (d)
Total 20 1800
Odds Ratio = a X d / b X c = 35
Unlike the cohort study, a relative risk is not used in a case-control study. Instead, an "odds ratio" is used. An odds ratio can give a reasonable estimate of the relative risk when the proportion of subjects with the disease is small. This example illustrates the observation that half of persons with IgA nephropathy (1 to 2% per year) may go on to chronic renal failure.