Research By Disease – CheckOrphan

Disease: Hypertensive hypokalemia familial

17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature
A case of atypical reninoma with mild hypertension and normal plasma renin activity but elevated plasma renin concentration
A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping
A case report of three children with secondary hypertension caused by Liddle syndrome
A Family with Liddle Syndrome Caused by a Novel Stop-Gain Mutation in the gamma Subunit of Epithelial Sodium Channels
A Family with Liddle Syndrome Caused by a Novel Stop-Gain Mutation in the γ Subunit of Epithelial Sodium Channels
A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel beta-subunit
A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel β-subunit
A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review
A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension
A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension
A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia
A NOVEL GLUCOCORTICOID RECEPTOR MUTATION IN PRIMARY GENERALIZED GLUCOCORTICOID RESISTANCE DISEASE
A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome
A Rare Case of Familiar Hypertension Presenting with Hypertensive Encephalopathy in an Elderly Patient: A Diagnostic Dilemma: A Presentation of Liddle's Syndrome due to Novel Mutation in SCNN1G Gene
A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency
A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene
A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters
A Review of the Pharmacological Efficacy and Safety of Licorice Root from Corroborative Clinical Trial Findings
A structured summary of a study protocol for a multi-center, randomized controlled trial (RCT) of COVID-19 prevention with Kampo medicines (Integrative Management in Japan for Epidemic Disease by prophylactic study: IMJEDI P1 study)
Abiraterone-Induced Secondary Hypertension: Two Wrongs Don't Make a Right
Activation of the kidney sodium chloride cotransporter by the β2-adrenergic receptor agonist salbutamol increases blood pressure
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia
Apparent mineralocorticoid excess in Israel: a case series and literature review
Assessment of serum electrolytes and kidney function test for screening of chronic kidney disease among Ethiopian Public Health Institute staff members, Addis Ababa, Ethiopia
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes
Bradycardia after pulse methylprednisolone therapy in a child-Uncommon side effect of a frequently used drug: A case report
Case report: 17α- hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients
Cassia angustifolia and tacrolimus interaction in a liver transplant patient, a case report
Characteristics and Outcomes in Primary Aldosteronism Patients Harboring Glucocorticoid-Remediable Aldosteronism
Clinical and Genetic Analyses of Two Unrelated 46, XX Girls with Combined 17α-Hydroxylase/17,20-lyase Deficiency from China
Clinical and genetic characteristics of the patients with hypertension and hypokalemia carrying a novel SCNN1A mutation
Clinical and genetic characteristics of the patients with hypertension and hypokalemia carrying a novel SCNN1A mutation
Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients
Clinicopathological Study of Chronic Kidney Disease of Unknown Etiology in Odisha
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family
Conn Syndrome
Conn Syndrome
Control of sodium and potassium homeostasis by renal distal convoluted tubules
Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report
Deletion of renal Nedd4-2 abolishes the effect of high sodium intake (HS) on Kir4.1, ENaC, and NCC and causes hypokalemia during high HS
Demographic Characteristics, Etiology, and Comorbidities of Patients with Cushing's Syndrome: A 10-Year Retrospective Study at a Large General Hospital in China
Diagnosis, treatment and genetic analysis of a case of familial aldosteronism type II with WFS1 gene mutation
Elevated Serum Androstenedione Level in a Patient With Ectopic Adrenocorticotropic Hormone Syndrome
Evaluation of a Best-Practice Advisory for Primary Aldosteronism Screening
First survey on the diagnosis and treatment of primary aldosteronism by Spanish Endocrinology and Nutrition specialists
Gitelman Syndrome
Gitelman Syndrome
Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene
Gitelman syndrome with normocalciuria - a case report
Incidence and Risk Factors of Sudden Cardiac Death in End-Stage Renal Disease Patients Undergoing Hemodialysis: A Retrospective Study
Kir4.1 deletion prevents salt-sensitive hypertension in early streptozotocin-induced diabetic mice via Na + -Cl - cotransporter in the distal convoluted tubule
Kir4.1/Kir5.1 in the DCT plays a role in the regulation of renal K+ excretion
Liddle syndrome as a rare cause of hypertension - a case report
Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent
Liddle syndrome due to a novel mutation in the gamma subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report
Liddle syndrome misdiagnosed as primary aldosteronism is caused by inaccurate aldosterone-rennin detection while a novel SCNN1G mutation is discovered
Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B
Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene
Long-term outcome success after operative treatment for primary aldosteronism
Mg(2+) restriction downregulates NCC through NEDD4-2 and prevents its activation by hypokalemia
Mg2+ restriction downregulates NCC through NEDD4-2 and prevents its activation by hypokalemia
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5
Molecular mechanisms in primary aldosteronism
Monogenic form of secondary arterial hypertension
Monogenic forms of low-renin hypertension: clinical and molecular insights
MST3 is involved in ENaC-mediated hypertension
Multiple molecular mechanisms are involved in the activation of the kidney sodium-chloride cotransporter by hypokalemia
NBCe1-A is required for the renal ammonia and K(+) response to hypokalemia
NBCe1-A is required for the renal ammonia and K+ response to hypokalemia
Old and new genes in primary aldosteronism
Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review
Pathophysiologic approach in genetic hypokalemia: An update
Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension
Peritoneal dialysis-related infections in elderly patients
Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
Primary Aldosteronism
Primary aldosteronism associated with a germline variant in CACNA1H
Primary Hyperaldosteronism
Primary Hyperaldosteronism
Rare but serious cause for hypokalaemia and hypertension
Replacing salt with low-sodium salt substitutes (LSSS) for cardiovascular health in adults, children and pregnant women
Report on three cases of familial primary aldosteronism type IV
Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion
Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome
Secondary Hypertension
Secondary Hypertension
Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report
Symptomatic Hypokalemia in a 19-Year-Old Student
Systematic Review of Therapeutic Agents and Long-Term Outcomes of Familial Hyperaldosteronism Type 1
Truncated Epithelial Sodium Channel beta Subunit Responsible for Liddle Syndrome in a Chinese Family
Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family
Unequal crossing over between CYP11B2 and CYP11B1 causes 11 beta -hydroxylase deficiency in a consanguineous family
Unequal crossing over between CYP11B2 and CYP11B1 causes 11 β -hydroxylase deficiency in a consanguineous family
What We Know about and What Is New in Primary Aldosteronism
Who should be screened for primary aldosteronism? A comprehensive review of current evidence
WNK bodies cluster WNK4 and SPAK/OSR1 to promote NCC activation in hypokalemia