A male university student presented with left sided abdom- inal pain radiating to the groin. The pain had lasted ten days and was increasing. He felt nauseous and had been off food for two days. He reported that he had a UTI one year previ- ously and his brother and aunt had both had renal stones in the past. On examination his abdomen was tender, with pain local- ized to the left pelvic region. A urinary dipstick test was positive for blood (trace), protein, leukocytes, and ketones. Baseline laboratory investigations (serum sodium, potas- sium, creatinine, calcium, phosphate, full blood count) were all normal, but an X-ray demonstrated a 1.5 cm diam- eter stone at the junction of the left kidney and its ureter. This was initially treated with stenting of the left ureter and the patient was discharged pending further investigation. A full metabolic 'stone screen' demonstrated no abnormal- ities other than a positive cystine screening test. Urinary cystine excretion was 2008 µmol/24h (normal <420) and urinary excretion of lysine, ornithine, and arginine were also increased. Further management consisted of ensuring adequate fluid intake throughout the 24-hour period to ensure cystine was held below its urinary saturation point. (a) What is the relevance of his family history? (b) Why was excretion of lysine, ornithine, and arginine also increased?
A male university student presented with left sided abdom- inal pain radiating to the groin. The pain had lasted ten days and was increasing. He felt nauseous and had been off food for two days. He reported that he had a UTI one year previ- ously and his brother and aunt had both had renal stones in the past. On examination his abdomen was tender, with pain local- ized to the left pelvic region. A urinary dipstick test was positive for blood (trace), protein, leukocytes, and ketones. Baseline laboratory investigations (serum sodium, potas- sium, creatinine, calcium, phosphate, full blood count) were all normal, but an X-ray demonstrated a 1.5 cm diam- eter stone at the junction of the left kidney and its ureter. This was initially treated with stenting of the left ureter and the patient was discharged pending further investigation. A full metabolic 'stone screen' demonstrated no abnormal- ities other than a positive cystine screening test. Urinary cystine excretion was 2008 µmol/24h (normal <420) and urinary excretion of lysine, ornithine, and arginine were also increased. Further management consisted of ensuring adequate fluid intake throughout the 24-hour period to ensure cystine was held below its urinary saturation point. (a) What is the relevance of his family history? (b) Why was excretion of lysine, ornithine, and arginine also increased?
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Transcribed Image Text:A male university student presented with left sided abdom-
inal pain radiating to the groin. The pain had lasted ten days
and was increasing. He felt nauseous and had been off food
for two days. He reported that he had a UTI one year previ-
ously and his brother and aunt had both had renal stones
in the past.
On examination his abdomen was tender, with pain local-
ized to the left pelvic region. A urinary dipstick test was
positive for blood (trace), protein, leukocytes, and ketones.
Baseline laboratory investigations (serum sodium, potas-
sium, creatinine, calcium, phosphate, full blood count)
were all normal, but an X-ray demonstrated a 1.5 cm diam-
eter stone at the junction of the left kidney and its ureter.
This was initially treated with stenting of the left ureter and
the patient was discharged pending further investigation.
A full metabolic 'stone screen' demonstrated no abnormal-
ities other than a positive cystine screening test. Urinary
cystine excretion was 2008 umol/24h (normal <420) and
urinary excretion of lysine, ornithine, and arginine were
also increased. Further management consisted of ensuring
adequate fluid intake throughout the 24-hour period to
ensure cystine was held below its urinary saturation point.
(a) What is the relevance of his family history?
(b) Why was excretion of lysine, ornithine, and arginine
also increased?
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