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[PMID]: 29229744
[Au] Autor:Pagani L; Diekmann Y; Sazzini M; De Fanti S; Rondinelli M; Farnetti E; Casali B; Caretto A; Novara F; Zuffardi O; Garagnani P; Mantero F; Thomas MG; Luiselli D; Rossi E
[Ad] Address:From the Department of Biology (L.P.) and Endocrinology Unit, Department of Medicine (F.M.), University of Padova, Italy; Estonian Biocentre, Tartu (L.P.); Research Department of Genetics, Evolution and Environment, University College London, United Kingdom (Y.D., M.G.T.); Department of Biological G
[Ti] Title:Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor.
[So] Source:Hypertension;71(2):273-279, 2018 Feb.
[Is] ISSN:1524-4563
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Liddle syndrome is considered a rare Mendelian hypertension. We have previously described 3 reportedly unrelated families, native of an Italian area around the Strait of Messina, carrying the same mutation (ßP617L) of the epithelial sodium channel. The aims of our study were (1) to evaluate whether a close genomic relationship exists between the 3 families through the analysis of mitochondrial DNA and Y chromosome; and (2) to quantify the genomic relatedness between the patients with Liddle syndrome belonging to the 3 families and assess the hypothesis of a mutation shared through identity by descent. HVRI (the hypervariable region I) of the mitochondrial DNA genome and the Y chromosome short tandem repeats profiles were analyzed in individuals of the 3 families. Genotyping 542 585 genome-wide single nucleotide polymorphisms was performed in all the patients with Liddle syndrome of the 3 families and some of their relatives. A panel of 780 healthy Italian adult samples typed for the same set of markers was used as controls. espite different lineages between the 3 families based on the analysis of mitochondrial DNA and Y chromosome, the 3 probands and their 6 affected relatives share the same ≈5 Mbp long haplotype which encompasses the mutant allele. Using an approach based on coalescent theory, we estimate that the 3 families inherited the mutant allele from a common ancestor ≈13 generations ago and that such an ancestor may have left ≈20 carriers alive today. The prevalence of Liddle syndrome in the region of origin of the 3 families may be much higher than that estimated worldwide.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180116
[Lr] Last revision date:180116
[St] Status:In-Data-Review
[do] DOI:10.1161/HYPERTENSIONAHA.117.10491

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[PMID]: 29144530
[Au] Autor:Freercks R; Meldau S; Jones E; Ensor J; Weimers-Willard C; Rayner B
[Ad] Address:Division of Nephrology and Hypertension, Livingstone Hospital, Port Elizabeth, South Africa; Department of Medicine, Division of Nephrology and Hypertension, University of Cape Town, Cape Town, South Africa. Email: robert.freercks@uct.ac.za.
[Ti] Title:Liddle's syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene.
[So] Source:Cardiovasc J Afr;28(4):e4-e6, 2017 Sep 23.
[Is] ISSN:1680-0745
[Cp] Country of publication:South Africa
[La] Language:eng
[Ab] Abstract:Resistant hypertension is a common clinical problem in South Africa and is frequently associated with low renin and aldosterone levels, especially in black Africans. In South Africa, novel variants in the epithelial sodium channel (ENaC) have been described to be associated with varying degrees of hypokalaemia and hypertension due to primary sodium retention. We report here a case of Liddle's syndrome due to a novel c.1709del11 (p.Ser570Tyrfs*20) deletion in the beta-subunit of the ENaC in a young black African male. We discuss the likely pathogenesis of hypertension in this setting as well as the treatment options available in South Africa aimed at the ENaC. This case highlights the need for vigilance in detecting and appropriately treating low-renin and low-aldosterone hypertension in view of the frequency of the described variants of the ENaC channel in our country. Specific therapy such as amiloride should be made more widely available.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171116
[Lr] Last revision date:171116
[St] Status:In-Process
[do] DOI:10.5830/CVJA-2017-012

  3 / 449 MEDLINE  
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[PMID]: 28915228
[Au] Autor:Liu K; Qin F; Sun X; Zhang Y; Wang J; Wu Y; Ma W; Wang W; Wu X; Qin Y; Zhang H; Zhou X; Wu H; Hui R; Zou Y; Jiang X; Song L
[Ad] Address:aHypertension Center bState Key Laboratory of Cardiovascular Diseases cDepartment of Cardiology, National Center for Cardiovascular Diseases, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China *Kai Liu and Fang Qin contributed equally to this article. †Yubao Zou, Xiongjing Jiang, and Lei Song contributed equally to this article.
[Ti] Title:Analysis of the genes involved in Mendelian forms of low-renin hypertension in Chinese early-onset hypertensive patients.
[So] Source:J Hypertens;, 2017 Sep 14.
[Is] ISSN:1473-5598
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: The study aimed to analyze genes involved in Mendelian forms of low-renin hypertension in Chinese early-onset hypertensive patients. METHODS: A panel of nine genes, namely SCNN1B, SCNN1G, WNK1, WNK4, KLHL3, CUL3, nuclear receptor subfamily 3, group C (NR3C)1, NR3C2, and HSD11B2 were screened by targeted resequencing in 260 Chinese early-onset hypertensive patients. Additionally, exon 13 of both SCNN1B and SCNN1G was sequenced in an independent cohort of 506 Chinese early-onset hypertensive patients. RESULTS: About 81 nonrare and 41 rare variants were, respectively, detected in 221 (85.0%) and 39 (15.0%) patients from the cohort of 260. Of the total 766 patients, those with rare variants in exon 13 of either SCNN1B or SCNN1G had a significantly earlier onset of hypertension (24.7 ±â€Š7.5 vs. 29.0 ±â€Š7.7 years, P = 0.015) and lower serum potassium (3.57 ±â€Š0.59 vs. 3.96 ±â€Š0.41 mmol/l, P = 0.007) than those without rare variants. However, other identified rare variants had no effects on clinical expression. Seven patients (0.91%) were diagnosed with Liddle's syndrome, and the Liddle's syndrome prevalence was 1.72% among the 407 patients with hypertension diagnosed before the age of 30. Genetic screening of the probands' relatives identified 10 additional Liddle's syndrome patients. Treatment of Liddle's syndrome patients with amiloride resulted in normalization of both blood pressure and serum potassium. CONCLUSION: Liddle's syndrome appears to be the most common low-renin Mendelian hypertension in young Chinese hypertensive patients. Sequencing exon 13 of both SCNN1B and SCNN1G is highly advisable in patients with early-onset and low-renin hypertension.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170915
[Lr] Last revision date:170915
[St] Status:Publisher
[do] DOI:10.1097/HJH.0000000000001556

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[PMID]: 28878664
[Au] Autor:Korpaisarn S; Trachoo O; Panthan B; Aroonroch R; Suvikapakornkul R; Sriphrapradang C
[Ad] Address:Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
[Ti] Title:A Novel Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease.
[So] Source:Case Rep Oncol;10(2):769-776, 2017 May-Aug.
[Is] ISSN:1662-6575
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in , the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemical laboratory examinations confirmed the ACTH-independent adrenal Cushing syndrome with negative Liddle test. A small right adrenal adenoma of 0.8 cm was shown on computed tomography while magnetic resonance imaging revealed nodularity of both adrenal glands. The histological report confirmed PPNAD using laparoscopic right adrenalectomy, and subsequent left adrenalectomy was performed 6 months later. She had inherited heterozygosity of a novel germline mutation of the gene (g.114213T≥G or c.709-5T≥G). This splice site mutation results in exon 8 skipping. Her father carrying the same mutation had no clinical features of either PPNAD or Carney complex. This novel gene mutation, c.709-5T≥G, is reported here for the first time manifesting as an incomplete clinical expression of the isolated form of PPNAD and being inherited with low penetrance unlike other inherited mutations of the Carney complex which have a penetrance of almost 100%.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170910
[Lr] Last revision date:170910
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1159/000479585

  5 / 449 MEDLINE  
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[PMID]: 28870047
[Au] Autor:Gitelman Syndrome Collaborative Study Group
[Ti] Title:[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome].
[So] Source:Zhonghua Nei Ke Za Zhi;56(9):712-716, 2017 Sep 01.
[Is] ISSN:0578-1426
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the 12 3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people. The prevalence of GS is even higher in Asia than other countries. The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood. Common clinical manifestations are associated with electrolyte abnormalities, such as muscle weakness, salt craving and tetany. However, the phenotype of GS is highly variable and links to the quality of life. Diagnosis of GS is based on the clinical symptoms, biochemical abnormalities (normal/low blood pressure, metabolic alkalosis, hypomagnesemia, hypocalciuria and increased activity of renin-angiotensin- aldosterone system) and genetic test. Genetic diagnosis of GS is recommended for all patients and the diagnosis is confirmed when biallelic inactivating 12 3 mutations are identified. The differential diagnosis includes renal tubular acidosis, primary hyperaldosteronism, Bartter syndrome, Liddle syndrome and other diseases that cause hypokalemia. Among them Bartter syndrome (especially type â…¢) is the most important genetic disorder to consider due to its similar manifestations with GS. All GS patients are encouraged to keep high-sodium diet. Magnesium and potassium supplements (oral or intravenous) are usually given to GS patients to improve clinical symptoms. Other medicines such as aldosterone receptor antagonists, angiotensin-converting-enzyme inhibitors (ACEIs), angiotensin â…¡ receptor blockers (ARBs) and prostaglandin synthetase inhibitors (PGSIs) are alternative choices of treating hypokalemia, but the side-effects of these medication should be well considered. Management of GS includes health education, complication evaluation and regular follow-up. Annual evaluation by a nephrologist is recommended. Extra evaluation and treatment depend on special conditions, such as pregnancy, perioperative or growth period. Antenatal diagnosis for GS is technically feasible but not recommend due to the benign prognosis in the majority of patients. In general, this expert consensus statement aims to establish an initial framework for the better diagnosis, treatment and management of Chinese patients with GS.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170905
[Lr] Last revision date:170905
[St] Status:In-Data-Review
[do] DOI:10.3760/cma.j.issn.0578-1426.2017.09.021

  6 / 449 MEDLINE  
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[PMID]: 28718682
[Au] Autor:Yang KQ; Lu CX; Fan P; Zhang Y; Meng X; Dong XQ; Luo F; Liu YX; Zhang HM; Wu HY; Cai J; Zhang X; Zhou XL
[Ad] Address:a Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases , Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing , China.
[Ti] Title:Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.
[So] Source:Clin Exp Hypertens;:1-5, 2017 Jul 18.
[Is] ISSN:1525-6006
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Liddle syndrome is an autosomal dominant form of monogenic hypertension. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, resulting in misdiagnosis and severe complications at early age. OBJECTIVES: To identify mutation in SCNN1B and SCNN1G genes in an adolescent with suspicious Liddle syndrome and his family members and to explore the screening target subjects of Liddle syndrome. METHODS: Genetic analysis of the C-terminus of SCNN1B and SCNN1G genes was conducted in an adolescent, with treatment-resistant hypertension and hypokalemia, who was suspected of having Liddle syndrome, and his family members. A Medline research of the reported cases with Liddle syndrome was also performed. RESULTS: A recurrent SCNN1B mutation, c.1853C>A (p.P618H), was detected in the 19-year-old male patient, and family screening identified five additional members who were heterozygous for the mutation. The diagnosis of Liddle syndrome was made in all affected individuals. Despite the phenotypic variability, a systematic review of 54 reported index cases revealed the early-onset hypertension, aged no more than 30 years, as a common feature. CONCLUSIONS: Genetic screening for Liddle syndrome should be considered in hypertensive subjects with early penetrance, maybe no more than 30 years, after exclusion of common secondary causes of hypertension.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170718
[Lr] Last revision date:170718
[St] Status:Publisher
[do] DOI:10.1080/10641963.2017.1334799

  7 / 449 MEDLINE  
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[PMID]: 28710092
[Au] Autor:Salih M; Gautschi I; van Bemmelen MX; Di Benedetto M; Brooks AS; Lugtenberg D; Schild L; Hoorn EJ
[Ad] Address:Departments of Internal Medicine and.
[Ti] Title:A Missense Mutation in the Extracellular Domain of ENaC Causes Liddle Syndrome.
[So] Source:J Am Soc Nephrol;28(11):3291-3299, 2017 Nov.
[Is] ISSN:1533-3450
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Liddle syndrome is an autosomal dominant form of hypokalemic hypertension due to mutations in the - or -subunit of the epithelial sodium channel (ENaC). Here, we describe a family with Liddle syndrome due to a mutation in ENaC. The proband was referred because of resistant hypokalemic hypertension, suppressed renin and aldosterone, and no mutations in the genes encoding - or ENaC. Exome sequencing revealed a heterozygous, nonconservative T>C single-nucleotide mutation in ENaC that substituted Cys479 with Arg (C479R). C479 is a highly conserved residue in the extracellular domain of ENaC and likely involved in a disulfide bridge with the partner cysteine C394. In oocytes, the C479R and C394S mutations resulted in similar twofold increases in amiloride-sensitive ENaC current. Quantification of mature cleaved ENaC in membrane fractions showed that the number of channels did not increase with these mutations. Trypsin, which increases open probability of the channel by proteolytic cleavage, resulted in significantly higher currents in the wild type than in C479R or C394S mutants. In summary, a mutation in the extracellular domain of ENaC causes Liddle syndrome by increasing intrinsic channel activity. This mechanism differs from that of the - and -mutations, which result in an increase in channel density at the cell surface. This mutation may explain other cases of patients with resistant hypertension and also provides novel insight into ENaC activation, which is relevant for kidney sodium reabsorption and salt-sensitive hypertension.
[Mh] MeSH terms primary: Epithelial Sodium Channels/genetics
Liddle Syndrome/genetics
Mutation, Missense
[Mh] MeSH terms secundary: Humans
Pedigree
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Epithelial Sodium Channels)
[Em] Entry month:1711
[Cu] Class update date: 171109
[Lr] Last revision date:171109
[Js] Journal subset:IM
[Da] Date of entry for processing:170716
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016111163

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[PMID]: 28617146
[Au] Autor:Othong R; Trakulsrichai S; Wananukul W
[Ad] Address:a Department of Emergency Medicine, Faculty of Medicine Vajira Hospital , Navamindradhiraj University , Bangkok , Thailand.
[Ti] Title:Diospyros rhodocalyx (Tako-Na), a Thai folk medicine, associated with hypokalemia and generalized muscle weakness: a case series.
[So] Source:Clin Toxicol (Phila);55(9):986-990, 2017 Nov.
[Is] ISSN:1556-9519
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Diospyros rhodocalyx (Tako-Na) is a Thai folk medicine purported to promote longevity, treat impotence, etc. We present patients with hypokalemia, weakness and hypertension after consuming Tako-Na tea. CASE SERIES: Case 1: A 61-year-old man was brought in nine hours after drinking 400-500 mL of Tako-Na tea. One handful of Tako-Na bark was boiled in water to make tea. He had vomiting and watery diarrhea six hours after drinking it. He took no medications and had no history of hypertension. The only remarkable vital sign was BP 167/90 mmHg. Physical examination revealed generalized muscle weakness. Laboratory findings were potassium 2.7 mmol/L, bicarbonate 24 mmol/L, and transtubular potassium gradient (TTKG) 5.6. He was discharged the next day with a BP 140/90 mmHg and potassium 4.2 mmol/L. Case 2: A 78-year-old man, a friend of case 1, also drank Tako-Na tea from the same pot at the same time as case 1. He also had vomiting and diarrhea six hours later. He took no medications despite past history of hypertension (baseline SBP 140-160). Initial BP was 230/70 mmHg. He also had muscle weakness. Laboratory findings were potassium 3.3 mmol/L, bicarbonate 24 mmol/L, TTKG 7.37 and normal thyroid function. He was also discharged the next day with a BP 148/70 mmHg and potassium 4.2 mmol/L. Case 3-7: These were patients reported to a poison center and their potassium concentrations were 1.4, 1.4, 3.3, 1.3 and 1.2 mmol/L, respectively. Three of them were intubated and case 3 died. CONCLUSIONS: Tako-Na contains betulin, betulinic acid, taraxerone, lupeol, and lupenone. Their structures are similar to glycyrrhetic acid, the active metabolite of glycyrrhizic acid found in licorice which is well known to cause pseudoaldosteronism. Glycyrrhetic acid is potent in inhibiting 11-beta-hydroxysteroid dehydrogenase, and causes pseudoaldosteronism. We hypothesize that the compounds in Tako-Na act in the same way as glycyrrhetic acid in producing pseudoaldosteronism.
[Mh] MeSH terms primary: Diospyros/adverse effects
Hypokalemia/chemically induced
Medicine, Traditional/adverse effects
Muscle Strength/drug effects
Muscle Weakness/chemically induced
Muscle, Skeletal/drug effects
Plant Preparations/adverse effects
Potassium/blood
[Mh] MeSH terms secundary: Aged
Biomarkers/blood
Blood Pressure/drug effects
Electrocardiography
Female
Heart Rate/drug effects
Humans
Hypertension/chemically induced
Hypertension/physiopathology
Hypokalemia/blood
Hypokalemia/diagnosis
Hypokalemia/therapy
Liddle Syndrome/chemically induced
Male
Middle Aged
Muscle Weakness/diagnosis
Muscle Weakness/physiopathology
Muscle Weakness/therapy
Muscle, Skeletal/physiopathology
Phytotherapy/adverse effects
Plants, Medicinal/adverse effects
Retrospective Studies
Thailand
Ventricular Premature Complexes/chemically induced
Ventricular Premature Complexes/physiopathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers); 0 (Plant Preparations); RWP5GA015D (Potassium)
[Em] Entry month:1709
[Cu] Class update date: 170911
[Lr] Last revision date:170911
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170616
[St] Status:MEDLINE
[do] DOI:10.1080/15563650.2017.1330957

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[PMID]: 28589074
[Au] Autor:Abbass A; D'Souza J; Khalid S; Asad-Ur-Rahman F; Limback J; Burt J; Shah R
[Ad] Address:Internal Medicine Residency, Florida Hospital-Orlando.
[Ti] Title:Liddle Syndrome in Association with Aortic Dissection.
[So] Source:Cureus;9(5):e1225, 2017 May 04.
[Is] ISSN:2168-8184
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Liddle syndrome is a rare form of autosomal dominant monogenic hypertension manifested as an early onset of resistant hypertension with either no response or suboptimal response to conventional antihypertensive therapy. If there is a delay in diagnosis, uncontrolled hypertension can lead to end organ damage. To our knowledge, aortic dissection has not been reported in association with this disease. We report a case of a dissecting aortic aneurysm occurring in association with Liddle syndrome.​.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.7759/cureus.1225

  10 / 449 MEDLINE  
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[PMID]: 28545287
[Au] Autor:Zhang P; Kong LQ; Huang DJ
[Ti] Title:[Liddle syndrome complicating with nonfunctional adrenal cortical adenoma: a case report].
[So] Source:Zhonghua Xin Xue Guan Bing Za Zhi;45(4):331-332, 2017 Apr 24.
[Is] ISSN:0253-3758
[Cp] Country of publication:China
[La] Language:chi
[Mh] MeSH terms primary: Adrenal Gland Neoplasms/complications
Adrenocortical Adenoma/complications
Liddle Syndrome/complications
[Mh] MeSH terms secundary: Female
Humans
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170807
[Lr] Last revision date:170807
[Js] Journal subset:IM
[Da] Date of entry for processing:170527
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0253-3758.2017.04.015


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