Liddle's Syndrome in an Elderly Woman.

Matsushita, Takayuki; Miyahara, Yoshiyuki; Matsushita, Miwa; Yakabe, K; Yamagata, Kenji; Furukawa, K; Iwasaki, Tadasu; Naito, Tatsuji; Ikeda, Satoshi; Miyazaki, Masanobu; Ogata, Hirofumi; Ohzono, Yoshiyuki; Harada, Takashi; Kohno, Shigeru

doi:10.2169/internalmedicine.37.391

Cited by 13 publications

(8 citation statements)

References 16 publications

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“…An increasing number of mutations have been described, but to date, only the β and γ subunits have been involved (16). With wider appreciation of this rare form of genetic hypertension, the diagnosis is more frequently being made in young (17), middle-aged (18), and even elderly patients (19). Despite the excitement of defining the genetic causes of human hypertension, numerous screening efforts of various ethnic populations have not changed the original view that Liddle's syndrome is a rare cause of human hypertension.…”

Section: Liddle's Syndromementioning

confidence: 99%

Renal Genetic Disorders Related to K⁺ and Mg²⁺

Warnock

2002

Annu. Rev. Physiol.

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The recent knowledge of the renal epithelial transport systems has exploded with the identification, cloning, and characterization of a large number of membrane transport proteins. The fundamental aspects of these transporters are beginning to emerge at the molecular level and are summarized in the accompanying contributions in this volume of the Annual Review of Physiology. The aim of my review is to integrate this body of knowledge with the understanding of the clinical disorders of human mineral homeostasis that accompany gain, loss, or dysregulation of function of these transport systems. The specific focus is on the best defined human clinical syndromes in which there are derangements in K(+) and Mg(2+) homeostasis.

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Section: Liddle's Syndromementioning

confidence: 99%

Renal Genetic Disorders Related to K⁺ and Mg²⁺

Warnock

2002

Annu. Rev. Physiol.

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“…In the previous study (16) Elderly patients with an AME-like condition had been frequently described in recent reports (1)(2)(3)(4)(5) …”

Section: Discussionmentioning

confidence: 91%

“…It has been recently demonstrated (1)(2)(3)(4)(5) that the elderly patients with signs of mineralocorticoid excess may not infrequently show low circulating levels of aldosterone. These abnormalities are similar to those seen in both a syndrome of apparent mineralocorticoid excess (AME) (6,7) and Liddle's syndrome (8,9).…”

Section: Introductionmentioning

confidence: 99%

Two Elderly Patients with Mineralocorticoid Excess Due to 11.BETA.-Hydroxysteroid Dehydrogenase Type 2 (11.BETA.-HSD2) Impairment

Inada¹,

Iwasaki²,

Chihiro³

et al. 2008

Intern. Med.

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“…Patients with autosomal dominant disease or sporadic mutations have the common characteristic of early onset of hypertension. In contrast, cases of Liddle’s-like syndrome have been reported in elderly patients [ 10 – 13 ]. Tapolyai et al (2010) performed a cohort study of predominantly elderly patients with a mean age of 67.1 years and reported that contained 9 patients (6%) satisfied the criteria for likely Liddle’s syndrome [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

“…Tapolyai et al (2010) performed a cohort study of predominantly elderly patients with a mean age of 67.1 years and reported that contained 9 patients (6%) satisfied the criteria for likely Liddle’s syndrome [ 13 ]. However, a family history of the disease was not found in these elderly patients [ 10 – 13 ], and no testing of ENaC was performed, except one case, which had a negative result [ 12 ]. The following two possibilities for Liddle’s-like syndrome have been reported: (1) Liddle’s-like syndrome might be associated with different inherited or acquired mutations in older adults; (2) age-, polypharmacy-, or renal disease-mediated dysfunction of the epithelial sodium cannel might cause Liddle’s-like biochemical profiles [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Liddle’s-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report

et al. 2018

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BackgroundLiddle’s syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel (ENaC) β or γ subunits. Patients with this syndrome present with early onset of hypertension, hypokalemia, metabolic alkalosis, hyporeninemia and hypoaldosteronism, and a potassium-sparing diuretics (triamterene or amiloride) can drastically improves the disease condition. Although elderly patients having these characteristics were considered to have Liddle’s syndrome or Liddle’s-like syndrome, no previous report has indicated that Liddle’s-like syndrome could be caused by nephrotic syndrome of primary glomerular disease, which is characterized by urinary excretion of > 3 g of protein/day plus edema and hypoalbuminemia, or has explained how the activity function of ENaC could be affected in the setting of high proteinuria.Case presentationA 65-year-old Japanese man presented with nephrotic syndrome. He had no remarkable family history, but had a medical history of hypertension and hyperlipidemia. On admission, hypertension, spironolactone-resistant hypokalemia (2.43 mEq/l), hyporeninemic hypoaldosteronism, and metabolic alkalosis, which suggested Liddle’s syndrome, were observed. Treatment with triamterene together with a steroid for nephrotic syndrome resulted in rapid and remarkable effective on improvements of hypertension, hypokalemia, and edema of the lower extremities. Renal biopsy revealed membranous nephropathy (MN) as the cause of nephrotic syndrome, and advanced gastric cancer was identified on screening examination for cancers that could be associated with the development of MN. After total gastrectomy, triamterene was not required and proteinuria decreased. A mutation in the β or γ subunits of the ENaC gene was not identified.ConclusionWe reported for the first time a case of Liddle’s-like syndrome associated with nephrotic syndrome secondary to MN. Aberrant activation of ENaC was suggested transient during the period of high proteinuria, and the activation was reversible with a decrease in proteinuria.

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Liddle's Syndrome in an Elderly Woman.

Cited by 13 publications

References 16 publications

Renal Genetic Disorders Related to K⁺ and Mg²⁺

Renal Genetic Disorders Related to K⁺ and Mg²⁺

Two Elderly Patients with Mineralocorticoid Excess Due to 11.BETA.-Hydroxysteroid Dehydrogenase Type 2 (11.BETA.-HSD2) Impairment

Liddle’s-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report

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Liddle's Syndrome in an Elderly Woman.

Cited by 13 publications

References 16 publications

Renal Genetic Disorders Related to K+ and Mg2+

Renal Genetic Disorders Related to K+ and Mg2+

Two Elderly Patients with Mineralocorticoid Excess Due to 11.BETA.-Hydroxysteroid Dehydrogenase Type 2 (11.BETA.-HSD2) Impairment

Liddle’s-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report

Contact Info

Product

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Renal Genetic Disorders Related to K⁺ and Mg²⁺

Renal Genetic Disorders Related to K⁺ and Mg²⁺