A previously healthy 10-year-old girl presented with occasional routine blood pressure measurements by her pediatrician above the 99th percentile for her age, sex, and height. She had noted mild hand edema over the previous days and reported recent nocturia. She was taking no medications. Family history was unremarkable. The physical examination was without significant findings other than an elevated blood pressure of 139/113 mm Hg. Urine tests showed boderline moderate albuminuria (albumin-creatinine ratio of 50 mg/g). There was no hematuria.On ultrasound, kidney size and parenchyma were unremarkable but an increased flow rate of the left renal artery in color duplex sonography was detected (systolic flow rate: right, 100 cm/s; left, 300 cm/s [age-adjusted normal values range from 72 to 104 cm/s]) (Fig 1A and B). No additional finding was reported. Magnetic resonance (MR) angiography of the kidney vessels was performed (Fig 2A) and antihypertensive therapy was initiated.
PatientID: N/A
KindredID: 1
Case: F, 10Y0M, Ethnicity Unknown
DiseaseAssertion: Assumed VHL
FamilyInfo: No family history, authors indicate that the variant occurred de novo.
CasePresentingHPOs: HP:0007514; HP:0000017; HP:0004421; HP:0012594; HP:0002666; HP:0001920 (Edema of the dorsum of hands; Nocturia; Elevated systolic blood pressure; Moderate albuminuria; Pheochromocytoma; Renal artery stenosis)
CaseHPOFreeText: Patient presented with occasional high routine blood pressure at 10Y0M. She noted mild hand edema over the past days and reported recent nocturia. Physical examination appeared normal other than elevated blood pressure of 139/113 mm Hg. Urine tests showed moderate albuminuria (albumin-creatinine ratio of 50 mg/g), as well as high levels of noradrenaline and normetanephrine, suggestive of benign pheochromocytoma. Ultrasound showed normal kidney size and parenchyma, but color duplex sonography revealed increased flow rate of the left renal artery. This finding suggests renal artery stenosis. Magnetic Resonance Angiography of the kidney vessels showed a solid tumor that had cystic features. Tumor resection normalized blood pressure and pathologic examination of the removed tumor confirmed pheochromocytoma. Patient was diagnosed with secondary hypertension due to compression of renal vessels and catecholamine production by vHL-associated pheochromocytoma. Antihypertensive therapy with phenoxybenzamine as α blockade was initiated, along with subsequent expansion of the therapy with a β-blocker. Authors mention that the patient is in complete remission with no other manifestations of VHL disease and is receiving close follow-up.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.G104V (c.311G>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 223183, https://www.ncbi.nlm.nih.gov/clinvar/variation//223183/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transversion
CivicName: G104V (c.311G>T)
MultipleGeneVariants: N/A