scholarly journals Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Gianluca Vergine ◽  
Elena Fabbri ◽  
Annalisa Pedini ◽  
Silvana Tedeschi ◽  
Niccolò Borsa
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Metabolic Alkalosis ◽  
Phenotypic Variability ◽  
Bartter Syndrome ◽  
Syndrome Type ◽  
Renal Tubular Disorder ◽  
Renal Tubular ◽  
Genetically Determined

Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

scholarly journals Rare Variant of Bartter Syndrome with Sensorineural Deafness

2016 ◽  
Vol 35 (3) ◽  
pp. 293-294
Author(s):  
Rajesh Kumar ◽  
Pankaj Kumar ◽  
Manoj Kumar
Keyword(s):  
Blood Pressure ◽  
Sodium Chloride ◽  
Rare Variant ◽  
Metabolic Alkalosis ◽  
Sensorineural Deafness ◽  
Bartter Syndrome ◽  
Normal Blood ◽  
Normal Blood Pressure ◽  
Renal Tubular Disorder ◽  
Renal Tubular

Bartter syndrome is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia, hyper-prostaglandinism, normal blood pressure, with increased urinary loss of sodium, chloride, potassium, calcium and prostaglandins. There are five known type of Bartter syndrome, out of which type 4 and 5 are very rare. We are presenting here a case of Bartter syndrome with sensorineural hearing loss.J Nepal Paediatr Soc 2015;35(3):293-294.

scholarly journals Bartter Syndrome in Children; A Cause of Severe Hypokalemic Metabolic Alkalosis: Clinical Case Report and Literature Review

2020 ◽  
pp. 1-7
Author(s):  
A. Radi ◽  
M. Akhrif ◽  
M. Kmari ◽  
A. Ourrai ◽  
A. Hassani ◽  
...  
Keyword(s):  
Metabolic Alkalosis ◽  
Clinical Case ◽  
Male Infant ◽  
High Plasma ◽  
Bartter Syndrome ◽  
Thick Ascending Limb ◽  
Triangular Face ◽  
Renal Tubular Disorder ◽  
Dysmorphic Syndrome ◽  
Renal Tubular

Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle. It characterized by urinary loss of sodium, potassium, and chloride; hypokalemic metabolic alkalosis; normal blood pressure, high plasma levels of renin and aldosterone. There is phenotypical and genetic variability of Bartter syndrome since were identified five genes responsible for five different forms of Bartter syndrome. The objective of this work is to report a clinical case to study the pathophysiological, clinical, biological and therapeutic features of this syndrome. Materials and Methods: We reported a case of 04-month-old male infant admitted for acute dehydration secondary to polyuro-polydipsia syndrome and vomiting. In clinical presentation the patient had a dysmorphic syndrome with triangular face, protruding ears and flattened nasal root. Laboratory tests revealed hypokalemia, hyponatremia, metabolic alkalosis and hypercalciuria. Treatment with indomethacin was started at 1 mg/kg per day with favorable outcome.

scholarly journals Gitelman syndrome and ectopic calcification in the retina and joints

2021 ◽  
Author(s):  
Yeji Ham ◽  
Heather Mack ◽  
Deb Colville ◽  
Philip Harraka ◽  
B Biomed ◽  
...  
Keyword(s):  
Calcium Pyrophosphate ◽  
Bartter Syndrome ◽  
Gitelman Syndrome ◽  
Ectopic Calcification ◽  
Aggressive Management ◽  
Renal Tubular Disorder ◽  
Rate Of Progression ◽  
Renal Tubular ◽  
Retinal Photography

ABSTRACT Gitelman syndrome is a rare inherited renal tubular disorder with features that resemble thiazide use, including a hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria, a low or normal blood pressure, and hyperreninemia and hyperaldosteronism. Treatment is primarily correction of the K and Mg levels. The diagnosis is confirmed with genetic testing but Gitelman syndrome is often not suspected. However the association with ectopic calcification in the retina, blood vessels and chondrocalcinosis in the joints is a useful pointer to this diagnosis. Bilateral symmetrical whitish deposits of calcium pyrophosphate are visible superotemporally on ophthalmoscopy and retinal photography but are actually located beneath the retina in the sclerochoroid. Optical coherence tomography is even more sensitive for their detection. These deposits increase in size with time, but the rate of progression slows with long-term correction of the hypomagnesemia. Calcification may be complicated by atrophy of the overlying retina and visual loss. The deposits often correlate with ectopic calcification in the aorta, coronary and cerebral vessels. Chondrocalcinosis occurs in the large joints such as the knees. Ectopic calcification in Gitelman syndrome indicates the need for more aggressive management of Ca and Mg levels. Calcification is much less common in Bartter syndrome which itself is rarer and associated less often with hypomagnesemia.

scholarly journals Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy

2016 ◽  
Vol 115 (5) ◽  
pp. 382-383
Author(s):  
Gwo-Tsann Chuang ◽  
Shih-Hua Lin ◽  
Yong-Kwei Tsau ◽  
I-Jung Tsai
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Bartter Syndrome

scholarly journals Hypokalemic Periodic Paralysis Associated with Thyrotoxicosis, Renal Tubular Acidosis and Nephrogenic Diabetes Insipidus

2010 ◽  
Vol 57 (4) ◽  
pp. 347-350 ◽  
Author(s):  
Eun Joo IM ◽  
Jung Min LEE ◽  
Ji Hyun KIM ◽  
Sang Ah CHANG ◽  
Sung Dae MOON ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Renal Tubular Acidosis ◽  
Nephrogenic Diabetes Insipidus ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Renal Tubular

Approach to the patient with polyuria

2015 ◽  
Author(s):  
Daniel G. Bichet
Keyword(s):  
Magnetic Resonance Imaging ◽  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Clinical Characteristics ◽  
Bartter Syndrome ◽  
Resonance Imaging ◽  
Osmotic Diuresis ◽  
Sodium Potassium ◽  
Sodium Calcium ◽  
Vasopressin Secretion

In a polyuric patient, first exclude osmotic diuresis, then differentiate between primary polydipsia, central, and nephrogenic diabetes insipidus, with clinical characteristics, simple blood and urine tests, and hypothalamic magnetic resonance imaging. Mammals are osmoregulators and osmolality is perceived by central and peripheral osmotic receptors and influencing thirst perception and vasopressin secretion. In congenital polyuric states it is useful to distinguish ‘pure’ polyuric states, that is, loss of water only but normal conservation of sodium, potassium, chloride, and calcium, from complex (water + sodium + calcium) polyuric states. For the latter, the triad polyuria/polyhydramnios/prematurity is a tell-tale sign of Bartter syndrome. We recommend sequencing of the nephrogenic diabetes insipidus and Bartter genes in all the affected congenital and hereditary polyuric patients. Acquired central and nephrogenic polyuric states are simpler to evaluate.

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