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Orphanet J Rare Dis 2019 Feb 13;14(1):41. Epub 2019 Feb 13.

Genome Research Division, Human Genetics department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.

Background: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for ion channels localizing to the renal tubules including SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, MAGED2 and CASR have been identified as underlying molecular cause. No genetically defined cases have been described in the Iranian population to date. Read More

Eur J Case Rep Intern Med 2018 21;5(3):000764. Epub 2018 Mar 21.

Internal Medicine, Liaquat College of Medicine and Dentistry and Darul Sehat Hospital, Karachi, Pakistan.

Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia. Read More

J Sports Sci 2019 Feb 6:1-7. Epub 2019 Feb 6.

b Faculty of Sport , University of Ljubljana , Ljubljana , Slovenia.

The aim of this study was to investigate the effect of pre-induced inspiratory muscle fatigue (IMF) on race-paced swimming and acid-base status. Twenty-one collegiate swimmers performed two discontinuous 400-m race-paced swims on separate days, with (IMF trial) and without (control trial) pre-induced IMF. Swimming characteristics, inspiratory and expiratory mouth pressures, and blood parameters were recorded. Read More

Crit Care 2019 Jan 24;23(1):22. Epub 2019 Jan 24.

The Nephrology Department of Xijing Hospital, the Fourth Military Medical University, No. 127 Changle West, Road, Xi'an, 710032, Shaanxi, China.

Background: Regional citrate anticoagulation (RCA) is a widely used strategy for continuous renal replacement therapy (CRRT). Most of the current guidelines recommend liver failure as one of the contraindications for citrate anticoagulation. However, some studies suggested that the use of citrate for CRRT in liver failure patients did not increase the risk of citrate-related complications. Read More

Indian J Crit Care Med 2018 Dec;22(12):883-885

Department of Internal Medicine, Stuttgart Hospital, Stuttgart, Germany.

Repeated vomiting may lead to profound loss of fluid and electrolytes. We describe a case with life-threatening acid-base disturbances due to vomiting. A 38-year-old man presented to an emergency department with weakness and decreased urine output after having vomited up to 20 times per day over a period of 7 days. Read More

BMJ Case Rep 2019 Jan 18;12(1). Epub 2019 Jan 18.

Department of Internal Medicine, Kantonsspital Graubunden, Chur, Switzerland.

Two years after diagnosis of a metastatic neuroendocrine gastrin-secreting tumour and after several cycles of chemotherapy and peptide receptor radionuclide therapy, a 56-year-old woman presented with hypokalaemic metabolic alkalosis, hypertension, leg oedema and new-onset diabetes mellitus. Further investigations revealed renal potassium loss confirmed by a transtubular potassium gradient of 16, fully suppressed serum aldosterone, but instead highly elevated blood levels of morning cortisol and adrenocorticotropic hormone as well as increased urinary excretion of glucocorticoid and mineralocorticoid metabolites. Ruling out other causes, paraneoplastic hypercortisolism was diagnosed. Read More

Diabetes Metab Syndr 2019 Jan - Feb;13(1):216-221. Epub 2018 Aug 22.

Department of Internal Medicine, Division of Endocrinology, Saint Louis University School of Medicine, United States. Electronic address:

Aims: Although diabetic ketoacidosis (DKA) commonly presents as a pure diabetic ketoacidosis (PDKA), up to 30% of cases may be associated with a mixed hypochloremic metabolic alkalosis (HMA). It is unknown whether there is a difference in treatment outcomes between these two entities. We evaluated an insulin infusion protocol (IIP), previously validated for hyperglycemia management in ICU's, for the management of PDKA and HMA. Read More

J Physiol 2019 Jan 12. Epub 2019 Jan 12.

Department of Biology, Faculty of Science and Technology, Mount Royal University, Calgary, Alberta, Canada.

BMC Pediatr 2019 Jan 11;19(1):16. Epub 2019 Jan 11.

Department of Medical Genetics, University of Szeged, Szeged, Hungary.

Background: Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC26A3, OMIM 126650) gene are responsible for the disease. The gene encodes a transmembrane protein, which is essential for intestinal chloride absorption. Read More

Am J Physiol Renal Physiol 2019 Jan 9. Epub 2019 Jan 9.

Dept of Pharmacology, New York Medical College, United States.

The aim of this mini review is to provide an overview regarding the role of inwardly-rectifying potassium channel 4.1 (Kir4.1)/Kir5. Read More

Am J Nephrol 2019 2;49(1):74-80. Epub 2019 Jan 2.

Department of Medicine, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, New York,

Background: The etiology of sudden cardiac death in patients with end-stage renal disease (ESRD) on hemodialysis (HD) is largely unknown, though there is evidence to suggest that metabolic alkalosis induced by HD with a high-bicarbonate dialysate/prescription may play a role.

Methods: We investigated the effects of metabolic alkalosis induced by HD with an acetate-containing bicarbonate-buffered dialysate on frequency of ventricular arrhythmia in 47 patients with ESRD on chronic HD using 48-h Holter monitoring in 3 phases: intra-HD, post-HD day 1, and post-HD day 2. Serum levels of bicarbonate, calcium, and potassium along with hemodynamics were measured pre-HD, post-HD, 20-h post-HD, and 44-h post-HD. Read More

Int J Nephrol 2018 18;2018:2872381. Epub 2018 Nov 18.

Renal Therapy Service (RTS), Bogotá 110221, Colombia.

Background: Acid-base disorders have been previously described in patients with chronic hemodialysis, with metabolic acidosis being the most important of them; however, little is known about the potential changes in acid-base status of patients on dialysis living at high altitudes.

Methods: Cross-sectional study including 93 patients receiving chronic hemodialysis on alternate days and living in Bogotá, Colombia, at an elevation of 2,640 meters (8,661 feet) over sea level (m.o. Read More

Ann Med Surg (Lond) 2019 Jan 29;37:21-24. Epub 2018 Nov 29.

Iran University of Medical Science, Tehran, Iran.

Introduction: Primitive neuroectodermal tumors (PNET) form a group of tumors defined by their appearance that are thought to develop from primitive (undifferentiated) nerve cells in the brain. They are rare tumors and their incidence is not well defined.

Case Presentation: An 18-month-old male presenting with typical Cushingoid appearance (moon face, central obesity, hirsutism and growth arrest) was admitted for evaluation of endocrine problems. Read More

Temperature (Austin) 2018 13;5(4):343-347. Epub 2018 Mar 13.

School of Sport, Exercise and Nutrition, Massey University, Private Bag 11-222, Palmerston North, New Zealand.

The purpose of this study was to investigate the effect of sodium bicarbonate ingestion on performance and recovery of the Wingate test during exercise in the heat. At 30 °C (∼50% relative humidity), ten male team sport athletes (mean values ± SD; age = 22 ± 4 y; body mass = 76 ± 9 kg) completed two 30s Wingate tests using a resistive load of 7.5% of body mass separated by 5 min of active recovery. Read More

Sheng Li Xue Bao 2018 Dec;70(6):600-606

Department of Pharmacology, Harbin Medical University, Harbin 150081, China.

Basolateral inwardly-rectifying K channels (Kir) play an important role in the control of resting membrane potential and transepithelial voltage, thereby modulating water and electrolyte transport in the distal part of nephron. Kir4.1 and Kir4. Read More

Nutrition 2019 Apr 22;60:122-128. Epub 2018 Oct 22.

University Hospital Muenster, Department of Pediatrics, Muenster, Germany.

Objectives: Multiple acyl-CoA dehydrogenase deficiency (MADD) is the most severe disorder of mitochondrial fatty acid β-oxidation. Treatment of this disorder is difficult because the functional loss of the electron transfer flavoprotein makes energy supply from fatty acids impossible. Acetyl-CoA, provided by exogenous ketone bodies such as NaßHB, is the only treatment option in severe cases. Read More

Nutrition 2019 Apr 13;60:94-99. Epub 2018 Oct 13.

Research Group on Metabolism, Nutrition and Strength Training, Department of Physical Education, Federal University of Parana, Curitiba, Brazil; Appalachian State University, Department of Health and Exercise Science, Appalachian State University, Boone, North Caroline, USA.

Objectives: It is well established that ingestion of sodium bicarbonate (NaHCO) causes metabolic alkalosis. However, there is no consensus in terms of optimal NaHCO doses leading to enhanced performance. This study aimed to determine the effects of different NaHCO doses on performance and lactate clearance in non-professional cyclists. Read More

Int J Nephrol Renovasc Dis 2018 9;11:291-301. Epub 2018 Nov 9.

Nephrology Division, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, São Paulo, Brazil,

Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle, resulting in salt wasting, hypokalemia, and metabolic alkalosis. Mutations of several genes encoding the transporters and channels involved in salt reabsorption in the thick ascending limb cause different types of Bartter syndrome. A poor phenotype-genotype relationship due to the interaction with other cotransporters and different degrees of compensation through alternative pathways is currently reported. Read More

Case Rep Oncol Med 2018 18;2018:4038397. Epub 2018 Oct 18.

Department of Medicine, Baystate Medical Center, University of Massachusetts Medical School, Springfield, MA, USA.

We present a case of small-cell lung cancer (SCLC) with syndrome of inappropriate antidiuretic hormone secretion (SIADH) in which serum sodium gradually normalized with the onset of hypertension, refractory hypokalemia, and chloride-resistant metabolic alkalosis due to ectopic adrenocorticotrophic hormone (ACTH) secretion (EAS). In this case report, we discuss the diagnostic challenges of dual paraneoplastic syndromes with SIADH and EAS, management of SCLC with paraneoplastic endocrinopathies, and their prognostic impact on SCLC. In addition, we discuss neuroendocrine differentiation and ectopic hormone production in relation to intratumoral heterogeneity in SCLC and propose tumor microenvironment and hormonal and metabolic dependence as important determinants of tumor growth and survival. Read More

Pediatr Nephrol 2018 Nov 19. Epub 2018 Nov 19.

Lausanne University Medical School, CHUV-1011, Lausanne, Switzerland.

Acid-base homeostasis is one of the most tightly regulated systems in the body. Maintaining the acid-base balance is particularly challenging for preterm infants and growing neonates. The kidney, which represents the crucial ultimate line of defense against disturbances of acid-base balance, undergoes a complex maturation process during the transition from a fetal to an extra-uterine environment. Read More

Pediatr Clin North Am 2019 02;66(1):121-134

Department of Pediatrics, Inova Children's Hospital, 3300 Gallows Road, Falls Church, VA 22042, USA; Division of Nephrology and Hypertension, Pediatric Specialists of Virginia, 3023 Hamaker Court, Suite 600, Fairfax, VA 22031, USA; Virginia Commonwealth School of Medicine, Richmond, VA, USA. Electronic address:

Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic with incidental diagnosis. Hypokalemic hypochloremic metabolic alkalosis is the common feature. Read More

Endocrinol Diabetes Metab Case Rep 2018 Oct;2018(1)

Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, Reading Hospital, Reading, Pennsylvania, USA.

Summary: A 74-year-old woman presented with progressive lethargy, confusion, poor appetite and abdominal pain. She was found to have non-PTH-mediated severe hypercalcemia with renal failure and metabolic alkalosis. Extensive workup for hypercalcemia to rule out alternate etiology was unrevealing. Read More

J Pak Med Assoc 2018 Nov;68(11):1721-1723

Children hospital, Pakistan Institute of Medical Sciences, Islamabad.

Bartter syndrome is an autosomal recessive disorder caused by gene mutations that involve hypokalaemia, hypochloraemia and metabolic alkalosis along with raised serum renin, hyperaldosteronism and normal blood pressure. We report two cases of neonatal Bartter syndrome. Case 1 was a product of non-consanguineous marriage and mother had unexplained polyhydramnios in pregnancy while case 2 was a product of consanguineous marriage. Read More

Front Physiol 2018 23;9:1490. Epub 2018 Oct 23.

Institute for Neurophysiology, Hannover Medical School, Hanover, Germany.

Dent disease 1 (DD1) is a renal salt-wasting tubulopathy associated with mutations in the Cl/H antiporter ClC-5. The disease typically manifests with proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis but is characterized by large phenotypic variability of no clear origin. Several DD1 cases have been reported lately with additional atypical hypokalemic metabolic alkalosis and hyperaldosteronism, symptoms usually associated with another renal disease termed Bartter syndrome (BS). Read More

Pediatr Int 2018 Nov 2. Epub 2018 Nov 2.

Department of Pediatrics, University of Pavia, Pavia, Italy.

Korean J Pediatr 2018 Oct 29. Epub 2018 Oct 29.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

Refractory hypertension in children is often secondary hypertension, which is potentially curable. Reninoma, a renin-secreting juxtaglomerular cell tumor, is a rare cause of severe hypertension, usually diagnosed in adolescents and young adults. Surgical resection of the tumor completely cures hypertension. Read More

Crit Care 2018 Oct 29;22(1):275. Epub 2018 Oct 29.

Division of Nephrology and Hypertension, Makassed General Hospital, Beirut, Lebanon.

Background: Metabolic alkalosis is common in patients with respiratory failure and may delay weaning in mechanically ventilated patients. Carbonic anhydrase inhibitors block renal bicarbonate reabsorption, and thus reverse metabolic alkalosis. The objective of this systematic review is to assess the benefits and harms of carbonic anhydrase inhibitor therapy in patients with respiratory failure and metabolic alkalosis. Read More

Acta Clin Belg 2018 Oct 27:1-7. Epub 2018 Oct 27.

a Division of Nephrology , Cliniques universitaires Saint-Luc , Brussels , Belgium.

Metabolic alkalosis defined by the increase of both plasma HCO3- level (>26 mmol/L) and blood arterial pH (>7.43) is quite frequent and usually accompanied by hypokalemia. Its pathogenesis requires both the generation of alkalosis and its maintenance. Read More

Sci Rep 2018 Oct 23;8(1):15639. Epub 2018 Oct 23.

Ocean and Earth Science, University of Southampton, Waterfront Campus, National Oceanography Centre Southampton, European Way, Southampton, SO14 3ZH, UK.

Marine crabs inhabit shallow coastal/estuarine habitats particularly sensitive to climate change, and yet we know very little about the diversity of their responses to environmental change. We report the effects of a rarely studied, but increasingly prevalent, combination of environmental factors, that of near-future pCO (~1000 µatm) and a physiologically relevant 20% reduction in salinity. We focused on two crab species with differing abilities to cope with natural salinity change, and revealed via physiological and molecular studies that salinity had an overriding effect on ion exchange in the osmoregulating shore crab, Carcinus maenas. Read More

F1000Res 2018 28;7:960. Epub 2018 Jun 28.

Internal Medicine Residency, Florida Hospital Orlando, Orlando, FL, 32803, USA.

Bronchogenic cysts are congenital malformations from abnormal budding of embryonic foregut and tracheobronchial tree. We present a case of bronchogenic cyst with severe back pain, epigastric distress and refractory nausea and vomiting.   A 44-year-old Hispanic female presented with a 3-week history of recurrent sharp interscapular pain radiating to epigastrium with refractory nausea and vomiting. Read More

Int Heart J 2018 Nov 10;59(6):1466-1468. Epub 2018 Oct 10.

Department of Pediatric Cardiology, Ibaraki Children's Hospital.

Gitelman syndrome (GS) is an inherited renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and low urinary calcium excretion. While it is considered a benign disease, severe ventricular arrhythmia and sudden cardiac death related to the prolongation of the QT interval have been reported in rare cases. Herein we report a 13-year-old girl with GS who presented with persistent prolongation of the QT interval, even after being treated for hypokalemia and hypomagnesemia. Read More

High Blood Press Cardiovasc Prev 2018 Dec 8;25(4):421-424. Epub 2018 Oct 8.

Studium Patavium (Formerly Department of Medicine), University of Padova, Padua, Italy.

Guillain-Barré syndrome (GBS) may be complicated by severe hypertension (HT) and in turns severe HT can occur with neurological damage mimicking a GBS, so that underlying causes should be investigated. We describe a case of a 62-year-old woman presented to the emergency department for hypertensive crisis with symmetric flaccid paralysis, hypotonia and hyporeflexia of both upper and lower limbs. Brain computed tomography, magnetic resonance imaging and lumbar puncture were normal. Read More

BMJ Case Rep 2018 Oct 2;2018. Epub 2018 Oct 2.

Department of Internal Medicine, St Joseph's University Medical Center, Paterson, New Jersey, USA.

Usually, hyperglycaemia crisis presents with acidotic pH, but ketoalkalosis is a rare and unheard entity presenting in diabetic ketoacidosis. We describe three unique cases where the patients present with hyperglycaemia >250 mg/dL, normal or alkalotic pH, and bicarbonate >20 meq/L, which does not meet criteria for diabetic ketoacidosis. However, once these patients were supplemented with intravenous fluids, diagnosis of diabetic ketoacidosis was evident in laboratory analysis. Read More

Indian J Nephrol 2018 Sep-Oct;28(5):365-369

Institute of Nephrology, Madras Medical College, The Tamilnadu Dr MGR Medical University, Chennai, Tamil Nadu, India.

Hypokalemic paralysis is an important and reversible cause of acute flaccid paralysis. The treating physician faces unique diagnostic and therapeutic challenges. We did a prospective study and included all patients with acute flaccid weakness and documented serum potassium of <3. Read More

J Physiol 2018 Dec 28;596(24):6191-6203. Epub 2018 Oct 28.

Department of Biology, Faculty of Science and Technology, Mount Royal University, Calgary, Alberta, Canada.

Key Points: Ascent to high altitude imposes an acid-base challenge in which renal compensation is integral for maintaining pH homeostasis, facilitating acclimatization and helping prevent mountain sicknesses. The time-course and extent of plasticity of this important renal response during incremental ascent to altitude is unclear. We created a novel index that accurately quantifies renal acid-base compensation, which may have laboratory, fieldwork and clinical applications. Read More

Horm Res Paediatr 2018 Sep 18:1-7. Epub 2018 Sep 18.

Background: Under physiological conditions, proximal tubular phosphate reabsorption via NaPi-IIa (and NaPi-IIc) ensures the maintenance of phosphate homeostasis. Impairment of NaPi-IIa, encoded by SLC34A1, is associated with various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and idiopathic infantile hypercalcemia and nephrocalcinosis.

Methods: A patient was referred to our hospital due to hyponatremia, hyperkalemia, and hypophosphatemia, as well as persistent hypercalcemia after fluid therapy and sodium replacement. Read More

J Cereb Blood Flow Metab 2018 Sep 18:271678X18799176. Epub 2018 Sep 18.

1 Division of Neurosurgery, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Metabolic dysfunction is a key pathophysiological process in the acute phase of traumatic brain injury (TBI). Although changes in brain glucose metabolism and extracellular lactate/pyruvate ratio are well known, it was hitherto unknown whether these translate to downstream changes in ATP metabolism and intracellular pH. We have performed the first clinical voxel-based in vivo phosphorus magnetic resonance spectroscopy (P MRS) in 13 acute-phase major TBI patients versus 10 healthy controls (HCs), at 3T, focusing on eight central 2. Read More

Zhonghua Wei Zhong Bing Ji Jiu Yi Xue 2018 Aug;30(8):777-782

Department of Surgical Intensive Care Unit, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, Shaanxi, China (Zhang C, Lin T, Zhang JY, Di Y, Li N, Gao J, Wang WJ, Liu SN, Wang Z, Liu C); Department of Emergency, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, Shaanxi, China (Liang H); Department of Blood Purification, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, Shaanxi, China (Jiang HL). Corresponding author: Liu Chang, Email:

Objective: To evaluate the clinical effect and safety of regional citrate anticoagulation (RCA) in continuous renal replacement therapy (CRRT) for acute kidney injury (AKI) after hepatectomy.

Methods: A retrospective analysis of the clinical data of all patients with AKI after hepatectomy for CRRT admitted to surgical intensive care unit (ICU) of the First Affiliated Hospital of Xi'an Jiaotong University from January 19th, 2013 to January 19th, 2018 was performed. According to the different anticoagulants, the patients were divided into no anticoagulant group (NA group), low molecular heparin anticoagulation (LMHA) group and RCA group. Read More

Am J Kidney Dis 2018 Sep 7. Epub 2018 Sep 7.

UCL Centre for Nephrology, UCL. Electronic address:

Gitelman syndrome is caused by inactivating mutations of the gene that encodes the renal sodium/chloride cotransporter (NCC; encoded by SLC12A3), resulting in hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Renal salt wasting commonly provokes mild hypotension. The paucity of previous kidney transplants from donors with known tubulopathies suggests that such conditions may be considered contraindications to donation. Read More

Case Rep Nephrol Dial 2018 May-Aug;8(2):138-146. Epub 2018 Aug 3.

Department of Anaesthesiology and Intensive Care, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

A 23-year-old woman was referred to the tertiary centre with acute kidney injury and severe metabolic alkalosis following an accidental ethylene glycol poisoning. The patient had been treated with continuous haemodiafiltration and regional citrate anticoagulation, and a tracheostomy was performed due to pneumonia. Besides severe metabolic alkalosis and hypernatremia, the laboratory tests revealed total protein of 108 g/L on admission to the tertiary centre. Read More

Int J Eat Disord 2018 Sep 7;51(9):1113-1116. Epub 2018 Sep 7.

Eating Recovery Center, Denver, Colorado.

We present a novel case of a woman with coincident occurrence of auditory and visual hallucinations, electrolyte disturbances, chloride unresponsive alkalosis, and an eating disorder. The patient was ultimately diagnosed with Gitelman syndrome comorbid with schizophreniform disorder and avoidant restrictive food intake disorder. Eating disorders are often associated with electrolyte abnormalities which, in turn, can cause or contribute to other neuropsychiatric symptoms. Read More

Respir Med Case Rep 2018 24;25:177-180. Epub 2018 Aug 24.

Department of Internal Medicine, Division of Pulmonary and Critical Care Medicine, Southern Illinois University School of Medicine, PO Box 19636, Springfield, IL, 62794, USA.

Background: Cushing's syndrome due to ectopic ACTH secretion has been associated with many cancers; most commonly small cell carcinoma of the lung and bronchial carcinoid tumors. Usually, patients who confer this diagnosis have poor prognosis.

Case Presentation: A 66-year-old female presented with worsening shortness of breath and weakness over three days. Read More

Int J Pediatr Otorhinolaryngol 2018 Oct 10;113:46-50. Epub 2018 Jul 10.

Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco. Electronic address:

Objectives: Hearing loss (HL) is one of the most common sensorineural disorders. In the present study, we identified two novel missense mutations in BSND gene causing Bartter syndrome type IV which is a genetic disease with an autosomal recessive transmission, characterized by hypokalaemia, metabolic alkalosis, an elevation in plasma renin activity and hyperaldosteronism as well as sensorineural deafness.

Methods: Whole-exome sequencing was performed to study the genetic causes of Hearing loss in two unrelated patients from two Moroccan families. Read More

Adv Chronic Kidney Dis 2018 Jul;25(4):358-365

Division of Nephrology and Hypertension, Henry Ford Hospital, Detroit, MI; and Division of Pulmonary and Critical Care Medicine, Henry Ford Hospital, Detroit, MI.

Hyperchloremic metabolic acidosis, particularly renal tubular acidosis, can pose diagnostic challenges. The laboratory phenotype of a low total carbon dioxide content, normal anion gap, and hyperchloremia may be misconstrued as hypobicarbonatemia from renal tubular acidosis. Several disorders can mimic renal tubular acidosis, and these must be appropriately diagnosed to prevent inadvertent and inappropriate application of alkali therapy. Read More

Neuropsychopharmacol Hung 2018 Jun;20(2):65-74

Municipal Clinic of Szentendre, Internal Medicine, Szentendre, Hungary.

The pathophysiologic significance of hypocapnia is strongly underestimated both in functional and organic diseases. Alterations of carbon dioxide levels immediately appear in the cytoplasm, causing abrupt pH changes. Compensatory mechanisms develop with latency, so intracellular alkalosis or acidosis can affect metabolism for hours/days. Read More

Endocr Rev 2018 12;39(6):1057-1088

Center for Adrenal Disorders, Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

Primary aldosteronism is characterized by aldosterone secretion that is independent of renin and angiotensin II and sodium status. The deleterious effects of primary aldosteronism are mediated by excessive activation of the mineralocorticoid receptor that results in the well-known consequences of volume expansion, hypertension, hypokalemia, and metabolic alkalosis, but it also increases the risk for cardiovascular and kidney disease, as well as death. For decades, the approaches to defining, diagnosing, and treating primary aldosteronism have been relatively constant and generally focused on detecting and treating the more severe presentations of the disease. Read More

Exp Clin Transplant 2018 12 17;16(6):754-756. Epub 2018 Aug 17.

Department of Anesthesiology and Pain Medicine, Yeungnam University Hospital, Daegu, Korea.

An interaction between regained renal function in a transplanted kidney and hyperventilation syndrome may interfere with correct diagnosis of acid-base status in patients with preoperative nongap acidosis. Here, we present a patient with glomerular nephritis and hyperchloremia who underwent kidney transplant. Progressively increasing bicarbonate reabsorption by the renal graft, which thereby changed the arterial carbon dioxide tension-to-bicarbonate ratio, resulted in a time-sequence swing of an acid-base interpretation despite persistent mixed respiratory alkalosis due to hyperventilation syndrome and nongap metabolic acidosis due to preexisting hyperchloremia. Read More

BMJ Case Rep 2018 Aug 16;2018. Epub 2018 Aug 16.

Internal Medicine Department, Hospital Garcia de Orta, Almada, Portugal.

Ectopic adrenocorticotropic hormone (ACTH) secretion represents 5%-10% of cases of Cushing's syndrome (CS), and approximately 50%-60% of these arise from neuroendocrine lung tumours, including small-cell lung cancer (SCLC). We report a 42-year-old man admitted with hypertension, metabolic alkalosis and severe hypokalaemia. On physical examination, centripetal obesity with 'moon face' and 'buffalo's hump' were identified, and wheezing on left lung was heard. Read More

J Med Case Rep 2018 Aug 17;12(1):222. Epub 2018 Aug 17.

Department of Medicine, University of Peradeniya, Peradeniya, Sri Lanka.

Background: Bartter's syndrome is a rare genetic tubulopathy affecting the loop of Henle leading to salt wasting. It is commonly seen in utero or in early neonatal period. Rare cases of acquired Bartter's syndrome are reported in association with infections like tuberculosis, granulomatous conditions like sarcoidosis, autoimmune diseases, and drugs. Read More

Am J Physiol Renal Physiol 2018 Nov 15;315(5):F1271-F1282. Epub 2018 Aug 15.

Nephrology Division, Department of Medicine, University of Rochester , Rochester, New York.

To better understand the role of the inward-rectifying K channel Kir4.1 (KCNJ10) in the distal nephron, we initially studied a global Kir4.1 knockout mouse (gKO), which demonstrated the hypokalemia and hypomagnesemia seen in SeSAME/EAST syndrome and was associated with reduced Na/Cl cotransporter (NCC) expression. Read More