Dataset Information

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

ABSTRACT: Hypokalemia of renal origin can arise from genetic abnormalities in a variety of transporters or channel proteins that mediate tubular handling of potassium. Recently, mutations in claudin 10 have been documented in patients with hypokalemia in association with a range of other electrolyte abnormalities and skin and sweat gland manifestations. We report a 12-year-old Hispanic boy who presented with anhydrosis, aptyalism, alacrima, hypokalemia, and hypocalciuria, in whom we detected a homozygous mutation in the claudin 10 gene. During the 4-year follow-up period, he developed hypermagnesemia and a decline in estimated glomerular filtration rate to 59mL/min/1.73m2. His unaffected parents and siblings were heterozygous for the mutation. We summarize the clinical phenotype encountered in patients with claudin 10 mutations. It is characterized by significant heterogeneity in electrolyte and extrarenal abnormalities and is associated with a risk for progressive loss of kidney function in up to 33% of cases. Awareness of this association between claudin 10 mutations and electrolyte abnormalities, namely hypokalemia and hypermagnesemia, sheds new light on the physiology of potassium and magnesium handling along the nephron and increases the likelihood of identifying the underlying tubular mechanism in patients with newly diagnosed hypokalemia with or without concomitant hypermagnesemia.

SUBMITTER: Meyers N

PROVIDER: S-EPMC7410102 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Meyers Nicole N Nelson-Williams Carol C Malaga-Dieguez Laura L Kaufmann Horacio H Loring Erin E Knight James J Lifton Richard P RP Trachtman Howard H

American journal of kidney diseases : the official journal of the National Kidney Foundation 20181025 3

Hypokalemia of renal origin can arise from genetic abnormalities in a variety of transporters or channel proteins that mediate tubular handling of potassium. Recently, mutations in claudin 10 have been documented in patients with hypokalemia in association with a range of other electrolyte abnormalities and skin and sweat gland manifestations. We report a 12-year-old Hispanic boy who presented with anhydrosis, aptyalism, alacrima, hypokalemia, and hypocalciuria, in whom we detected a homozygous ...[more]

PMID: 30482581

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Project description:RationaleGeller et al reported a rare mutation in the mineralocorticoid receptor (MR) resulting in constitutive MR activity. Progesterone, normally an MR antagonist, acts as a potent agonist with this mutation. Progesterone levels can increase 100-fold during pregnancy and thus lead to increased MR activity in this setting, resulting in hypertension (HTN) and hypokalemia during pregnancy and resolution of hypokalemia after delivery.Presenting concernsOur patient was a 33-year-old African American female with a history of pregnancy-induced HTN associated with hypokalemia during her last pregnancy. She presented with muscle weakness from profound hypokalemia complicated by nephrogenic diabetes insipidus (DI) and rhabdomyolysis.DiagnosisHer admission potassium was 1.9 mmol/L (3.5-5.1 mmol/L) with a 24-hour urine potassium of 35 mmol per day and an unmeasurable serum aldosterone level. Her potassium normalized 1 day after delivery off potassium supplementation and amiloride, which were last given 1 day prior to her delivery. Recurrent hypokalemia from nonaldosterone-mediated renal potassium wasting during pregnancy (with normal potassium in a nongestational state) is consistent with the cases of gain-of-function mutation in MR that Geller et al report. A definite diagnosis requires genetic analysis.InterventionsHer hypokalemia was refractory to potassium replacement but quickly responded to an inhibitor of the epithelial sodium channel (ENaC), amiloride.OutcomesHer potassium normalized on amiloride 10 mg per day and KCL 40 mEq daily during the remainder of her pregnancy, and her nephrogenic DI resolved after this correction of hypokalemia. After her delivery, her potassium remained normal off the potassium supplements and amiloride.Novel findingsPregnancy-induced hypokalemia from an activating MR mutation has rarely been reported. Pregnancy-induced HTN is often the first differential diagnosis in a patient who develops worsening in her HTN during pregnancy. We should also consider the possibility of a gain-of-function mutation in MR in these patients who also have associated hypokalemia.

Dataset Information

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Publications

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

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