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Vnitrni Lekarstvi 2022Liddle syndrome is an inherited form of arterial hypertension with autosomal dominant pattern of inheritance. It is caused by activating mutation of genes coding of the...
Liddle syndrome is an inherited form of arterial hypertension with autosomal dominant pattern of inheritance. It is caused by activating mutation of genes coding of the epithelial sodium channel in distal nephron. Mutation leads to excessive reabsorbtion of sodium ions and volume expansion resulting in arterial hypertension. Antoher typical laboratory findings are hypokalaemia, low levels of serum aldosteron and metabolic alkalosis. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, often resulting in misdiagnosis and severe complications at early age. Genetic studies should be done to confirm the diagnosis. Therapy of Liddle syndrome is based on administration of epithelial sodium channel blocker amilorid.
Topics: Humans; Liddle Syndrome; Epithelial Sodium Channels; Hypertension; Hypokalemia; Mutation
PubMed: 36575060
DOI: 10.36290/vnl.2022.115 -
Polski Merkuriusz Lekarski : Organ... Jun 2022Monogenic hypertension (MH) is a rare form of arterial hypertension (AH) in which a single gene mutation is responsible for developing the disease. This article... (Review)
Review
Monogenic hypertension (MH) is a rare form of arterial hypertension (AH) in which a single gene mutation is responsible for developing the disease. This article discusses the pathogenesis, genetics, phenotype, and treatment of monogenic forms of AH. According to Guyton's hypothesis, mutations responsible for MH development most often lead to increased renal sodium reabsorption, in a mineralocorticoid-dependent or -independent mechanism, resulting in fluid retention and increased blood pressure. MH most often appears in childhood or adolescence and is characterized by moderate to severe blood pressure elevation and resistance to standard treatment. The coexistence of water-electrolyte abnormalities, most commonly hypokalemia and metabolic alkalosis, is characteristic but not always present. Monogenic AH should also be considered in patients with precocious or delayed puberty, growth deficiency, brachydactyly, and severe symptoms or hypertension mediated-organ damage. Identifying patients with monogenic hypertension is of utmost importance to implement appropriate treatment and reduce the risk of cardiovascular complications.
Topics: Humans; Hypertension; Hypokalemia; Mineralocorticoids; Mutation
PubMed: 35801605
DOI: No ID Found -
World Journal of Pediatrics : WJP Feb 2021Bartter's syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle's loop. (Review)
Review
BACKGOUND
Bartter's syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle's loop.
DATA SOURCES
Literature reviews and original research articles were collected from database, including PubMed and Scopus.
RESULTS
According to the time of onset and symptoms, BS can be classified into antenatal and classic BS. Molecular studies have identified different subtypes of BS. BS types I, II and III are caused by mutations on genes encoding the luminal Na-K-2Cl co-transporter, the luminal K+ channel ROMK, and the basolateral chloride channel ClC-Kb (CLCNKB), respectively. Loss-of-function mutations of Barttin CLCNK type accessory beta subunit cause BS type IVa. Simultaneous mutations of CLCNKB and CLCNKA cause BS type IVb. BS type V consists in a novel transient form characterized by antenatal presentation due to mutations in the MAGE family member D2. Severe gain-of-function mutations of the extracellular calcium sensing receptor gene can result in an autosomal dominant condition of BS. Main clinical and biochemical alterations in BS include polyuria, dehydration, hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia, high levels of prostaglandins, normal or low blood pressure, hypercalciuria and failure to thrive. Treatment focuses mainly at correcting dehydration and electrolyte disturbances and in measures to reduce polyuria, including the use of nonsteroidal anti-inflammatory medications to control excessive renal prostaglandin E2 production.
CONCLUSIONS
Early diagnosis and treatment of BS may prevent long-term consequences such as growth failure, nephrocalcinosis and end-stage renal disease.
Topics: Bartter Syndrome; Humans
PubMed: 32488762
DOI: 10.1007/s12519-020-00370-4 -
The Veterinary Clinics of North... Jan 2023In clinical medicine, evaluation of acid-base balance can be a valuable diagnostic and monitoring tool. Blood gas machines need very small volumes of blood and provide... (Review)
Review
In clinical medicine, evaluation of acid-base balance can be a valuable diagnostic and monitoring tool. Blood gas machines need very small volumes of blood and provide immediate results, making them ideal for use in the emergency room and intensive care setting. This review outlines the stepwise approach to assessment of acid-base balance in dogs, common causes of acid-base abnormalities, and the general approach to treatment.
Topics: Dogs; Animals; Acid-Base Imbalance; Alkalosis; Acid-Base Equilibrium; Blood Gas Analysis; Hydrogen-Ion Concentration; Dog Diseases
PubMed: 36270834
DOI: 10.1016/j.cvsm.2022.07.014 -
Current Opinion in Nephrology and... Sep 2022Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are... (Review)
Review
PURPOSE OF REVIEW
Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na+-Cl--co-transporter (NCC). Recently, additional genetic causes of Gitelman-like syndromes have been identified that should be considered in genetic screening. This review aims to provide a comprehensive overview of the clinical, genetic and mechanistic aspects of Gitelman(-like) syndromes.
RECENT FINDINGS
Disturbed Na+ reabsorption in the distal convoluted tubule (DCT) is associated with hypomagnesemia and hypokalemic alkalosis. In Gitelman syndrome, loss-of-function mutations in SLC12A3 cause impaired NCC-mediated Na+ reabsorption. In addition, patients with mutations in CLCKNB, KCNJ10, FXYD2 or HNF1B may present with a similar phenotype, as these mutations indirectly reduce NCC activity. Furthermore, genetic investigations of patients with Na+-wasting tubulopathy have resulted in the identification of pathogenic variants in MT-TI, MT-TF, KCNJ16 and ATP1A1. These novel findings highlight the importance of cell metabolism and basolateral membrane potential for Na+ reabsorption in the DCT.
SUMMARY
Altogether, these findings extend the genetic spectrum of Gitelman-like electrolyte alterations. Genetic testing of patients with hypomagnesemia and hypokalemia should cover a panel of genes involved in Gitelman-like syndromes, including the mitochondrial genome.
Topics: Alkalosis; Bartter Syndrome; Gitelman Syndrome; Humans; Hypokalemia; Magnesium; Sodium; Solute Carrier Family 12, Member 3
PubMed: 35894287
DOI: 10.1097/MNH.0000000000000818