Increased Plasma Concentration of Atrial Natriuretic Hormone in Myotonic Dystrophy

Parlapiano, C; Antonini, Giovanni; Vichi, R.; Fragola, Pietro V.; Campana, E.; Rota, Cinzia; Borgia, Maria Clotilde; Tonnarini, Gianfranco; Negri, M

doi:10.1159/000007941

Cited by 2 publications

(3 citation statements)

References 17 publications

(17 reference statements)

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“…In those patients replacement therapy with a mineral corticoid (fludrocortisone) was ineffective. Although the mechanisms of adrenal hyporesponsiveness and resistance to exogenous mineral corticoid are unclear, abnormal DMPK activity may influence the expression of cytokines, ACTH, 8 and atrial natriuretic hormone, 9 and may be related to adrenocortical disorders.…”

Section: Discussionmentioning

confidence: 99%

Hyperkalemia in a neonate with congenital myotonic dystrophy

Miyata

Kato

Kubota

et al. 2009

Pediatrics International

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Key words congenital myotonic dystrophy, DMPK, hyperkalemia.Myotonic dystrophy (MD) is well known as a neuromuscular disorder and also as a multiple organ disorder that involves cataracts, diabetes mellitus, dysfunction of the gonads, and abnormal atrioventricular conduction. 1 Of these, hyperkalemia is a very rare complication that has previously been reported only in adults. 2,3 We recently treated a case of intractable hyperkalemia in an infant with congenital myotonic dystrophy (CMD). To our knowledge, this is the first report of hyperkalemia complicating CMD. Case reportA female infant weighing 3128 g was delivered by cesarean section at 38 weeks of gestation due to cephalopelvic discrepancy. Her Apgar scores were 8 and 9 at 1 and 5 min after birth, respectively. She was transported and admitted to the neonatal intensive care unit soon after birth based on hypotonia and an unusual looking face. Her mother was 28 years old and had not exhibited any other complications during or before pregnancy.The patient's facial appearance included a prominent forehead, an inverted V-shaped upper lip, thin cheeks, and scalloped concave temporalis muscles. She also exhibited generalized hypotonia and mild respiratory failure that required oxygen administration during the first week after birth. Chest X-ray indicated thin ribs, and ultrasound of the brain indicated bilateral ventriculomegaly. 4 A genetic investigation was performed, and expanded repeats over 1500 of cytosine-thymine-guanine (CTG) codons of the DMPK gene were detected; thus, the CMD diagnosis was confirmed.Upon admission the patient's serum potassium levels were elevated to 5.5 mEq/L. We first suspected that poor blood collection techniques were responsible for the elevated readings. At 7 days of age, however, her serum potassium levels were elevated further, to 6.7 mEq/L.As the urine output was 4.3 mL/kg per h, and both serum blood urea nitrogen and creatinine levels were 5.0 mg/dL and 0.2 mg/dL respectively, renal failure was not considered. Additionally, ultrasound evaluation performed at admission had indicated normal kidney appearance. Hemolysis due to poor blood collection technique was ruled out, because the serum values for other enzymes and peripheral blood cell count were normal (alanine aminotransferase, 13 IU/L; lactate dehydrogenase, 290 IU/L; white blood cells, 9600/mL; red blood cells, 381 ¥ 104/mL; hemoglobin, 13.7 g/dL; platelets, 39.7 ¥ 104/mL). Also any other cell lysis syndrome, including tumor lysis syndrome, rhabdomyolysis and hemolysis, were not considered because there was no elevation in creatinine phosphokinase (CPK), serum calcium or phosphorus levels (CPK, 54 IU/L; Ca, 9.7 mg/dL; P, 4.7 mg/dL).Endocrinological evaluation performed at 7 days of age (Table 1) did not indicate adrenocortical insufficiency, and the fraction excretion of potassium of 4.9% was also normal for her age.Between 7 and 10 days of age, enteral feeding was stopped and potassium-free solution was infused, after which the serum potassium decreased to 4.4 mEq/L. A...

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Section: Discussionmentioning

confidence: 99%

Hyperkalemia in a neonate with congenital myotonic dystrophy

Miyata

Kato

Kubota

et al. 2009

Pediatrics International

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“…Addison's disease), congenital adrenal hyperplasia, isolated mineralocorticoid deficiency (including CMOII deficiency) and drugs such as heparin can also result in low aldosterone and elevated renin activity (Perrin, 1994). In this regard it has been noted that patients with MyD have elevated atrial natriuretic peptide, a hormone known to inhibit aldosterone synthesis and to be associated with elevated renin activity (Clark et al , 1992;Parlapiano et al , 1998). Selective hypoaldosteronism, including unresponsiveness to AII infusions, has also been described experimentally and in patients with critical illness (Zipser et al , 1981;Muto et al , 1990;Aquilera et al , 1995).…”

Section: Discussionmentioning

confidence: 99%

“…In this regard it has been noted that patients with MyD have elevated atrial natriuretic peptide, a hormone known to inhibit aldosterone synthesis and to be associated with elevated renin activity (Clark et al. , 1992; Parlapiano et al. , 1998).…”

Section: Discussionmentioning

confidence: 99%

Hyperkalaemia and selective hypoaldosteronism in myotonic dystrophy*

Misra

DeSilva

Fellerman

et al. 2002

Clinical Endocrinology

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Myotonic dystrophy (MyD) is a common genetic neuromuscular disorder in which chromosome 19 gives rise to an abnormal expansion of CTG-trinucleotide repeats. MyD is a highly variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as gonadal, pancreatic, and adrenal dysfunction are being uncovered. Herein we present three unrelated cases with MyD with abnormally elevated serum potassium; 2 of the 3 cases presented clinically with cardiac dysrhythmias. Hyperkalaemic conditions such as renal failure, cortisol deficiency, pseudohyperkalaemia, and hyperkalaemic periodic paralysis were excluded. Further endocrine evaluation revealed baseline hypoaldosteronism associated with elevated renin activity. Perturbation of the renin-angiotensin-aldosterone system resulted in appropriately enhanced renin activity but with a subnormal aldosterone response, which appeared to be due to adrenal hyporesponsiveness. The treatment of all cases with fludrocortisone was without effect. Whether the apparent mineralocorticoid abnormality in MyD is due to associated hormonal perturbations (i.e. excessive ACTH responsiveness. elevated cytokines, elevated atrial natriuretic hormone, etc.), adrenal atrophy, and/or a manifestation of the underlying kinase dysfunction is uncertain, but merits further evaluation in view of the clinical consequence of hyperkalaemia.

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Increased Plasma Concentration of Atrial Natriuretic Hormone in Myotonic Dystrophy

Cited by 2 publications

References 17 publications

Hyperkalemia in a neonate with congenital myotonic dystrophy

Hyperkalemia in a neonate with congenital myotonic dystrophy

Hyperkalaemia and selective hypoaldosteronism in myotonic dystrophy*

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