Nov 21, 2016
WNK lysine deficient protein kinase 1
The WNK1 gene codes for a serine/threonine protein kinase (Xu et al., 2000).
Changes in the WNK1 gene have been found in individuals with hereditary sensory and autonomic neuropathy II and pseudohypoaldosteronism type IIC.
A change in the WNK1 gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.
The participant, a 49-year-old female with muscle weakness, balance problems, clumsiness, muscle twitching (fasiculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures was found to carry the following genetic change in the WNK1 gene: c.2336C>T/p.A779V.
The patient was in excellent health until age 45 when she started to notice muscle weakness and difficulty keeping up while playing sports. Her muscle weakness has continued to worsen and she now has balance problems, muscle twitching (fasciculations) and cramps, and difficulty with coordination. She has significant respiratory muscle weakness and requires nocturnal bi-level ventilation (BiPAP).
The patient has double vision (diplopia on lateral gaze) with weakness (opthalmoplegia) and started having seizures (left temporal lobe focus). These seizures are now controlled with carbamazepine treatment and a pacemaker.
The patient also has an abnormal heart rhythm (second-degree AV block) and had a pacemaker implanted at age 48. Based on recent imaging findings, she has probable early heart disease (cardiomyopathy).
She has been diagnosed with a potassium channel disease (channelopathy) with impaired renal excretion, and has had several episodes of extreme high potassium (hyperkalemia) with dramatic ECG changes, respiratory failure, and very low serum phosphate.
The patient also has stage 3 thyroid cancer (multifocal papillary).
Some of her other features include:
Amino acid abnormalities (elevated amino acid levels in urine, decreased amino acid levels in cerebrospinal fluid)
Do you think this profile matches someone you know? Contact us!