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Journal of Cystic Fibrosis : Official... May 2022Pseudo-Bartter syndrome (PBS) is a rare manifestation of Cystic fibrosis (CF) and can often be the initial presentation in these patients, however, due to significantly...
INTRODUCTION
Pseudo-Bartter syndrome (PBS) is a rare manifestation of Cystic fibrosis (CF) and can often be the initial presentation in these patients, however, due to significantly overlapping symptoms it is often misdiagnosed as simple dehydration or Bartter syndrome. The objective of our study was to highlight the key features of PBS and electrolyte imbalance in CF patients helping in early and prompt diagnosis.
METHOD
We performed a retrospective study from January 2015 to December 2019 at the Aga Khan University Hospital (AKUH), Pakistan. CF patients aged from 1-18 years, admitted at AKUH were enrolled and their laboratory data and individual charts were reviewed. Patients were categorized into three groups based on their serum electrolyte profile and their clinical findings were compared.
RESULT
We enrolled 72 CF patients, out of which 42 (58%) were categorized into the Normal Electrolyte (NE) group, 19 (26%) into the Electrolyte Imbalance (EI) group and 11 (15%) in the PBS group. Out of 11 cases, 6 (54.54%) patients in PBS group presented with features consistent with PBS leading to CF diagnosis labeled as "early presenters". Mean age of patients in the PBS group was 3.81± 0.86 years and their age at diagnosis were significantly lower as compared to other groups. Gastrointestinal disturbances including diarrhea, vomiting and constipation were more common in the EI and PBS groups. Polyuria was most common in the PBS (72%) group. Length of hospital stay showed no significant difference.
CONCLUSION
Pseudo-Bartter syndrome can be a presenting feature of cystic fibrosis. Electrolyte imbalance should be anticipated in hospitalized CF children and adolescent.
Topics: Adolescent; Bartter Syndrome; Child; Child, Preschool; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Electrolytes; Humans; Retrospective Studies
PubMed: 34610890
DOI: 10.1016/j.jcf.2021.09.013 -
Antioxidants (Basel, Switzerland) Mar 2023Two human genetic tubulopathies, Bartter's (BS) and Gitelman's (GS) syndromes, have normo/hypotension and absent cardiac remodeling despite their apparent angiotensin...
Two human genetic tubulopathies, Bartter's (BS) and Gitelman's (GS) syndromes, have normo/hypotension and absent cardiac remodeling despite their apparent angiotensin system (RAS) activation. This seeming contradiction has led to an extensive investigation of BSGS patients, the result of which is that BSGS represents a mirror image of hypertension. BSGS's unique set of properties has then permitted their use as a human model to probe and characterize RAS system pathways and oxidative stress in cardiovascular and renal remodeling and pathophysiology. This review details the results using GSBS patients that provide a deeper understanding of Ang II signaling and its associated oxidants/oxidative stress in humans. By providing a more complete and complex picture of cardiovascular and renal remodeling pathways and processes, studies of GSBS can inform the identification and selection of new targets and therapies to treat these and other oxidant-related disorders.
PubMed: 37107186
DOI: 10.3390/antiox12040811 -
Pediatric Nephrology (Berlin, Germany) Oct 2010Recent data demonstrate that patients affected with hypokalemic salt-losing tubulopathies are prone to acute cardiac arrhythmias and rhabdomyolysis. The tendency to...
Recent data demonstrate that patients affected with hypokalemic salt-losing tubulopathies are prone to acute cardiac arrhythmias and rhabdomyolysis. The tendency to these potentially fatal complications is especially high if chronic hypokalemia is severe, in patients with diarrhea, vomiting or a prolonged QT interval on standard electrocardiography, in patients on drug management with compounds prolonging the electrocardiographic QT interval (including antiarrhythmic agents, some antihistamines, macrolides, antifungals, psychotropics, beta2-adrenergic agonists or cisapride), following acute alcohol abuse and during exercise. Cardiac arrhythmias and rhabdomyolysis occur with sufficient frequency in hypokalemic salt-losing tubulopathies to merit wider awareness of their presence and the preparation of specific prevention and management recommendations.
Topics: Arrhythmias, Cardiac; Bartter Syndrome; Humans; Rhabdomyolysis
PubMed: 20549246
DOI: 10.1007/s00467-010-1580-4 -
Turkish Archives of Pediatrics Nov 2022Bartter syndrome and Gitelman syndrome are rare inherited tubulopathies characterized by hypokalemic, hypochloremic metabolic alkalosis. This study aimed to clarify the...
OBJECTIVE
Bartter syndrome and Gitelman syndrome are rare inherited tubulopathies characterized by hypokalemic, hypochloremic metabolic alkalosis. This study aimed to clarify the frequency of the phenotypic and genotypic subgroups, clinical features, long-term management, and prognosis of children diagnosed with Bartter syndrome and Gitelman syndrome in this study.
MATERIALS AND METHODS
Twenty-seven patients with Bartter syndrome and 6 patients with Gitelman syndrome, who were followed up between 2004 and 2020 in a single center, were included in the study.
RESULTS
The median age of diagnosis was 4 months in patients with Bartter syndrome and 174 months in patients with Gitelman syndrome. At the last follow-up, a total of 12 Bartter syndrome patients had chronic kidney disease with a mean 7.79 ± 4.73 years of age; 5 (18.5%) of these patients had chronic kidney disease stage 2, 5 (18.5%) had chronic kidney disease stage 3, and 2 (7.4%) had chronic kidney disease stage 5. Of the 5 patients with Bartter syndrome with chronic kidney disease stage 2, 2 had CLCNKB and 1 had SLC12A1 gene mutation. Also, CLCNKB mutation was detected in 2 of 5 patients with Bartter syndrome with chronic kidney disease stage 3. Finally, 2 patients with Bartter syndrome with chronic kidney disease stage 5 had BSND mutation in one and CLCNKB mutation in the other. Estimated glomerular filtration rates of all patients with Gitelman syndrome were normal at the last follow-up. There was no statistically significant association of development of chronic kidney disease with genetic mutation, nephrocalcinosis, prematurity, and hypokalemia.
CONCLUSION
Patients with Bartter syndrome and Gitelman syndrome may have a different clinical course due to the underlying genetic mutation. Bartter syndrome and Gitelman syndrome require lifelong treatment, and regular follow-up is important to prevent advanced-stage chronic kidney disease.
PubMed: 36314956
DOI: 10.5152/TurkArchPediatr.2022.22124 -
Frontiers in Genetics 2024Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and... (Review)
Review
Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden. The etiology of NL and NC is multifactorial and includes both environmental components and genetic components, with multiple studies showing high heritability. Causative gene variants have been detected in up to 32% of children with NL and NC. Children with NL and NC are genotypically heterogenous, but often phenotypically relatively homogenous, and there are subsequently little data on the predictors of genetic childhood NL and NC. Most genetic diseases associated with NL and NC are secondary to hypercalciuria, including those secondary to hypercalcemia, renal phosphate wasting, renal magnesium wasting, distal renal tubular acidosis (RTA), proximal tubulopathies, mixed or variable tubulopathies, Bartter syndrome, hyperaldosteronism and pseudohyperaldosteronism, and hyperparathyroidism and hypoparathyroidism. The remaining minority of genetic diseases associated with NL and NC are secondary to hyperoxaluria, cystinuria, hyperuricosuria, xanthinuria, other metabolic disorders, and multifactorial etiologies. Genome-wide association studies (GWAS) in adults have identified multiple polygenic traits associated with NL and NC, often involving genes that are involved in calcium, phosphorus, magnesium, and vitamin D homeostasis. Compared to adults, there is a relative paucity of studies in children with NL and NC. This review aims to focus on the genetic component of NL and NC in children.
PubMed: 38606357
DOI: 10.3389/fgene.2024.1381174 -
Clinical Kidney Journal Sep 2021Gitelman syndrome is a rare inherited renal tubular disorder with features that resemble thiazide use, including a hypokalemic metabolic alkalosis, hypomagnesemia,... (Review)
Review
Gitelman syndrome is a rare inherited renal tubular disorder with features that resemble thiazide use, including a hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria and a low or normal blood pressure, hyperreninemia and hyperaldosteronism. Treatment is primarily correction of the potassium and magnesium 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 and 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 Mg levels. Calcification is much less common in Bartter syndrome, which itself is rarer and associated less often with hypomagnesemia.
PubMed: 34476088
DOI: 10.1093/ckj/sfab034 -
Nutrients Aug 2021Gitelman's (GS) and Bartter's (BS) syndromes are rare, inherited autosomal recessive tubulopathies characterized by hypokalemia, metabolic alkalosis, renal sodium,... (Review)
Review
Gitelman's (GS) and Bartter's (BS) syndromes are rare, inherited autosomal recessive tubulopathies characterized by hypokalemia, metabolic alkalosis, renal sodium, chloride, and potassium and magnesium-wasting. While the treatment based on potassium, sodium, chloride, and magnesium supplementation in addition to other pharmacologic options are widely established, recommendations about the dietary approach to GS and BS still remain generic. In this review we focus on the dietary strategies to increase sodium, potassium, and magnesium intake in GS and BS patients. Potassium and magnesium-rich foods and supplements are considered together with those that may reduce through different mechanisms the potassium and magnesium plasma level. Magnesium supplementation is often poorly tolerated, causing abdominal pain and diarrhea in most patients. New formulations using liposome and, in particular, sucrosomial technology have been recently proposed for magnesium supplementation in order to increase magnesium supplement tolerability and intestinal absorption. The dietary approach to GS and BS may be very important in the therapeutic approach to these syndromes. Due to the relevance of the dietary approach to these syndromes, a nutritional counseling should always be recommended and the nutritionist should join nephrologists in the follow-up of GS and BS patient care.
Topics: Bartter Syndrome; Diet; Gitelman Syndrome; Humans; Magnesium; Potassium, Dietary; Sodium, Dietary
PubMed: 34578838
DOI: 10.3390/nu13092960 -
Physiological Reviews Oct 1999By the introduction of technological advancement in methods of structural analysis, electronics, and recombinant DNA techniques, research in physiology has become... (Review)
Review
By the introduction of technological advancement in methods of structural analysis, electronics, and recombinant DNA techniques, research in physiology has become molecular. Additionally, focus of interest has been moving away from classical physiology to become increasingly centered on mechanisms of disease. A wonderful example for this development, as evident by this review, is the field of ion channel research which would not be nearly as advanced had it not been for human diseases to clarify. It is for this reason that structure-function relationships and ion channel electrophysiology cannot be separated from the genetic and clinical description of ion channelopathies. Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, malignant hyperthermia), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized. Likewise, all types of voltage-gated ion channels for cations (sodium, calcium, and potassium channels) and anions (chloride channels) are described together with all knowledge about pharmacology, structure, expression, isoforms, and encoding genes.
Topics: Animals; Calcium Channels; Genetic Diseases, Inborn; Humans; Ion Channels; Kidney; Muscle, Skeletal; Neurons
PubMed: 10508236
DOI: 10.1152/physrev.1999.79.4.1317 -
Medicina (Kaunas, Lithuania) Sep 2023: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and... (Review)
Review
: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. : Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. : Overall, 118 patients, 48 case reports, and 9 case series ( = 70) were identified. Out of these, the majority of patients were male ( = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III ( = 59), followed by Type II ( = 19), Type I ( = 14), Type IV ( = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. : Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.
Topics: Humans; Male; Female; Bartter Syndrome; Potassium; Hyponatremia; Spironolactone; Europe
PubMed: 37763757
DOI: 10.3390/medicina59091638 -
Pediatric Nephrology (Berlin, Germany) Dec 2009Renal stone disease (nephrolithiasis) affects 3-5% of the population and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder... (Review)
Review
Renal stone disease (nephrolithiasis) affects 3-5% of the population and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder in over 35% of patients and may occur as a monogenic disorder that is more likely to manifest itself in childhood. Studies of these monogenic forms of hypercalciuric nephrolithiasis in humans, e.g. Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium. Thus, Bartter syndrome, an autosomal disease, is caused by mutations of the bumetanide-sensitive Na-K-Cl (NKCC2) co-transporter, the renal outer-medullary potassium (ROMK) channel, the voltage-gated chloride channel, CLC-Kb, the CLC-Kb beta subunit, barttin, or the calcium-sensing receptor (CaSR). Dent's disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium-phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia. These studies have provided valuable insights into the renal tubular pathways that regulate calcium reabsorption and predispose to hypercalciuria and nephrolithiasis.
Topics: Calcium; Chloride Channels; Humans; Hypercalciuria; Hypophosphatemia; Kidney Calculi; Magnesium Deficiency; Mutation; Nephrocalcinosis; Nephrolithiasis; Receptors, Calcium-Sensing
PubMed: 18446382
DOI: 10.1007/s00467-008-0807-0