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Participant 089

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Male, age 40 with abnormal bladder function (nocturia, polyuria, isosthenuria), acute kidney injury, and poor regulation of heart rate when moving from sitting to standing (postural orthostatic tachycardia syndrome)

Date of Report

Oct 09, 2018


The participant was healthy and active until age 32 when he began to develop symptoms of acute kidney injury (thought to have been caused by medication) and migraines. He was found to have a decreased number of white cells called neutrophils (neutropenia) and poor regulation of his heart rate when moving from sitting to standing (postural orthostatic tachycardia syndrome). Around this time, he was also diagnosed with hemoglobin C trait after hemoglobin analysis was performed. Further testing revealed decreased circulating renin and aldosterone levels, magnesium wasting in his kidneys, and an immune system abnormality (anti-glutamic acid decarboxylase (GAD65) antibody positivity). Some of his other symptoms include vertigo and abnormal bladder function (nocturia, polyuria, isosthenuria). The participant has been through a number of treatments and therapies that have not been successful at relieving the symptoms he is experiencing.

Symptoms / Signs
  • Migraine
  • Tension-type headache
  • Vertigo
  • Heart rate abnormalities (postural orthostatic tachycardia syndrome (POTS) and orthostatic intolerance)
  • Low blood pressure (hypotension)
  • Low blood and fluid volume (hypovolemia, chronic volume depletion)
  • Blood disorder (hemoglobin C trait)
  • Acute kidney injury
  • Abnormal bladder function (nocturia, polyuria, isosthenuria)
  • Magnesium wasting in kidneys (renal magnesium wasting)
  • Decreased hormone levels in blood (decreased circulating renin and aldosterone levels)
  • Immune system abnormality (anti-glutamic acid decarboxylase (GAD65) antibody positivity)
  • Low blood sugar after exertion (post-exertional hypoglycemia without Whipple’s triad)
  • Decreased number of white cells called neutrophils (neutropenia with large granular lymphocytes)
  • Flank pain
  • Chronic joint pain
Current Treatments
  • Florinef, Desopressin (DDAVP) – abnormal bladder function
  • Magnesium citrate, potassium citrate, IVIG – renal magnesium wasting
Prior Treatments
  • Cellcept, Rituximab – immune system abnormality
  • Fludrocort, Midodrine – OT
  • Hydroxyurea – sickle cell trait
  • Nonsteroidal anti-inflammatory drugs (NSAIDs) – migraine
  • Whole blood and exchange transfusions, plasmapheresis – postural orthostatic tachycardia syndrome
Considered treatments
Previously Considered Diagnoses
  • Nerve disorder
  • Immune system disorder
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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