Inherited Disorders of Sodium and Potassium Handling

Devuyst, Olivier; Zennaro, Maria‐Christina; Vargas‐Poussou, Rosa; Satlin, Lisa M.

doi:10.1007/978-3-030-52719-8_108

Cited by 2 publications

(1 citation statement)

References 318 publications

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“…17,18 Other deviations include elevated serum renin and aldosterone levels, alongside reduced magnesium and phosphate levels observed in some patients. 19 Urine electrolyte analyses reveal heightened excretion of sodium, potassium, and PGE2. Typically, Bartter Syndrome is accompanied by fetal growth disturbances and polyhydramnios 20 ; however, these manifestations were not evident in the current case based on the results.…”

Section: Discussionmentioning

confidence: 99%

Nephrogenic Diabetes Insipidus or Bartter Syndrome? A Dilemma of Refractory Hypokalemia in Pregnancy: A Case Report from Soedono Regional Public Hospital in Madiun

Aditya,

Wardhana,

Islamy

2024

Pharmacogn J.

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Section: Discussionmentioning

confidence: 99%

Nephrogenic Diabetes Insipidus or Bartter Syndrome? A Dilemma of Refractory Hypokalemia in Pregnancy: A Case Report from Soedono Regional Public Hospital in Madiun

Aditya,

Wardhana,

Islamy

2024

Pharmacogn J.

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Tubulopathies with hypokalemic alkalosis: Bartter and HELIX syndromes in children

Левиашвили

Савенкова

Amiryan

2023

Ross. vestn. perinatol. pediatr.

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The review presents literature data on tubulopathies with hypokalemic alkalosis: Bartter and HELIX syndromes. Orphan Bartter syndrome with autosomal recessive (types I, II, III, IV, V) or X-linked recessive types of inheritance (type V) due to mutations in the SLC12A1, KCNJ1, CLCNKB, BSND, CLCNKA/CLCNKB, MAGED2 genes, causing impaired reabsorption ions K+, Na+, Cl-, Ca2+, Mg2+ in the thick ascending loop of Henle and in the distal convoluted tubule, characterized by hypokalemia, metabolic alkalosis, hyperreninemia and secondary hyperaldosteronism, high PgE2 levels against normal or low blood pressure, hyperplasia of the juxtaglomerular apparatus, nephrocalcinosis with I, II, V types. A new tubulopathy HELIX syndrome is described in detail, the name is formed by the first letters of symptoms (Hypohidrosis, Electrolyte imbalance, Lacrimal gl and dysfunction, Ichthyosis, Xerostomia), due to mutations in the CLDN10 gene encoding Claudin-10b necessary for paracellular reabsorption of Na+ in the thick ascending part of the loop of Henle and exocrine glands. HELIX syndrome is manifested by extrarenal symptoms (dysfunction of the salivary, sweat, lacrimal glands with impaired secretion of water into saliva, sweat — hypohidrosis and tears — alacrima) and renal (hypokalemia, hypermagnesemia, less often hypercalcemia, metabolic alkalosis, hypocalciuria).

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Inherited Disorders of Sodium and Potassium Handling

Cited by 2 publications

References 318 publications

Nephrogenic Diabetes Insipidus or Bartter Syndrome? A Dilemma of Refractory Hypokalemia in Pregnancy: A Case Report from Soedono Regional Public Hospital in Madiun

Nephrogenic Diabetes Insipidus or Bartter Syndrome? A Dilemma of Refractory Hypokalemia in Pregnancy: A Case Report from Soedono Regional Public Hospital in Madiun

Tubulopathies with hypokalemic alkalosis: Bartter and HELIX syndromes in children

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