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Hypochloremic Alkalosis Clinical Presentation

  • Author: Abbas AlAbbad, MD; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Mar 13, 2014
 

History

Prenatal and neonatal history

Prenatal polyhydramnios is present in most patients with congenital forms of metabolic alkalosis, especially chloride-losing diarrhea (CLD). Premature birth resulting from polyhydramnios is common in patients with Bartter syndrome and CLD. Lack of meconium is highly suggestive of intrauterine diarrhea. Prolonged neonatal jaundice may be present. A history of hypotonia and lethargy without sepsis is significant in patients with early-onset hypochloremia and hypokalemia.

Infant history

In infants, a history of repeated vomiting may be suggestive of severe gastroesophageal reflux or pyloric stenosis. Failure to thrive is common. Constipation is very common in patients with Bartter syndrome. Diarrhea, when watery (see the image below), is highly suggestive of CLD.

Watery stool from an infant with congenital chlori Watery stool from an infant with congenital chloride-losing diarrhea. Chloride level was 205 mmol/L.

A salty taste upon being kissed may help identify patients with cystic fibrosis. Guidelines for newborn screening for cystic fibrosis have been established by the Centers of Disease Control and Prevention (CDC).[4] Central nervous system (CNS) dysfunctions (eg, lethargy, confusion, or seizure) are observed in patients with severe alkalosis. Neuromuscular symptoms include weakness and muscle cramps.

Other symptoms (eg, abdominal distention, dry skin, apathy, loss of interests, and frequent hospital admissions because of recurrent dehydration) are significant diagnostic clues during childhood.

Other history

A family history may be suggestive. Consanguinity, recurrent prematurity, neonatal demise, and psychomotor retardation are helpful clues to familial conditions.

A psychosocial history may reveal loss of interests and behavioral problems, which were reported in patients with chronic hypochloremic alkalosis. Difficulty in school performance may be a consequence of the disorder.

In hospitalized patients with hypochloremic metabolic alkalosis, the physician should always ask about nasogastric tube suctioning and oral secretions. Overzealous use of loop or thiazide diuretics, especially in the intensive care unit (ICU), is another important factor.

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Physical Examination

Patients with hypochloremic alkalosis commonly are small for their age, lethargic, or apathetic. Signs of chronic dehydration (eg, skin tenting and poor peripheral perfusion) may be evident upon presentation. One study reported that cystic fibrosis was diagnosed in an infant who presented with dehydration and metabolic alkalosis.[5]

Weight and height usually fall below the reference range in patients with chronic disease but are not affected in patients with acute disease. In one series, both weight and height were in the lowest 3% in more than 60% of patients with CLD.[3]

CNS manifestations range from mild to severe, depending on the severity of alkalosis, and may include the following:

  • Confusion
  • Apathy
  • Disorientation
  • Excessive sleeping
  • Seizure
  • Stupor

Depending on the cause of the hypochloremic alkalosis, the abdomen may be scaphoid (in Bartter syndrome) or distended (in CLD). (See the images below.)

Infant with severe metabolic alkalosis resulting f Infant with severe metabolic alkalosis resulting from congenital chloride-losing diarrhea.
Visible bowel loops in an infant with congenital c Visible bowel loops in an infant with congenital chloride-losing diarrhea.

Additional abdominal findings that may be present are as follows:

  • Peristaltic waves in children with CLD
  • Exacerbated bowel sounds in patients with CLD
  • Hard stools in patients with Bartter syndrome
  • Hepatomegaly (suggesting cystic fibrosis)

Musculoskeletal findings include muscle wasting, atrophy, and hypotonia. Respiratory findings include shallow breathing and hypopnea in severely affected children.

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Complications

Disease-related complications of hypochloremic alkalosis include the following:

  • Nephrocalcinosis and nephrolithiasis in patients with Bartter syndrome and in those with CLD
  • Liver damage and recurrent chest infection leading to hepatic and pulmonary failure, respectively, in patients with cystic fibrosis
  • End-stage renal disease (ESRD) in patients with poor compliance; ESRD can occur in all conditions mentioned, including Bartter syndrome and CLD
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Contributor Information and Disclosures
Author

Abbas AlAbbad, MD Associate Professor, Alfaisal University College of Medicine; Acting Head and Consultant Pediatric Transplant Nephrologist, Section of Pediatric Transplant Nephrology, Department of Kidney and Pancreas Transplantation, Organ Transplant Center, King Faisal Specialist Hospital and Research Center, Saudi Arabia

Abbas AlAbbad, MD is a member of the following medical societies: American Academy of Pediatrics, International Pediatric Transplant Association, International Society for Peritoneal Dialysis

Disclosure: Nothing to disclose.

Coauthor(s)

Sunil Sinha, MD Assistant Professor, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Sunil Sinha, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Acknowledgements

Sadek Al-Omran, MD Consultant Of Pediatrics and Pediatric Nephrologist, Departments of Pediatrics and Pediatric Nephrology, Maternity and Children's Hospital-Al-Ahsa, Saudi Arabia

Disclosure: Nothing to disclose.

Robert J Ferry Jr, MD Le Bonheur Chair of Excellence in Endocrinology, Professor and Chief, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Eli Lilly & Co Grant/research funds Investigator; MacroGenics, Inc Grant/research funds Investigator; Ipsen, SA (formerly Tercica, Inc) Grant/research funds Investigator; NovoNordisk SA Grant/research funds Investigator; Diamyd Grant/research funds Investigator; Bristol-Myers-Squibb Grant/research funds Other; Amylin Other; Pfizer Grant/research funds Other; Takeda Grant/research funds Other

Pinar Ozand, MD, PhD Head, Section of Inborn Errors of Metabolism, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Saudia Arabia

Disclosure: Nothing to disclose.

Christian J Renner, MD Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

References
  1. Akil I, Ozen S, Kandiloglu AR, Ersoy B. A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis. Clin Exp Nephrol. 2010 Jun. 14(3):278-82. [Medline].

  2. Naesens M, Steels P, Verberckmoes R. Bartter's and Gitelman's syndromes: from gene to clinic. Nephron Physiol. 2004. 96(3):p65-78. [Medline].

  3. Al-Abbad A, Nazer H, Sanjad SA, Al-Sabban E. Congenital chloride diarrhea: A single center experience with ten patients. Ann Saudi Med. 1995 Sep. 15(5):466-9. [Medline].

  4. [Guideline] Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004 Oct 15. 53:1-36. [Medline].

  5. Aranzamendi RJ, Breitman F, Asciutto C, Delgado N, Castanos C. [Dehydration and metabolic alkalosis: an unusual presentation of cystic fibrosis in an infant]. Arch Argent Pediatr. 2008 Oct. 106(5):443-6. [Medline].

  6. Hoglund P, Haila S, Socha J, et al. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet. 1996 Nov. 14(3):316-9. [Medline].

  7. Makela S, Kere J, Holmberg C. SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2002 Dec. 20(6):425-38. [Medline].

  8. Simon DB, Bindra RS, Mansfield TA, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet. 1997 Oct. 17(2):171-8. [Medline].

  9. Hulka F, Campbell TJ, Campbell JR, Harrison MW. Evolution in the recognition of infantile hypertrophic pyloric stenosis. Pediatrics. 1997 Aug. 100(2):E9. [Medline].

 
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Infant with severe metabolic alkalosis resulting from congenital chloride-losing diarrhea.
Watery stool from an infant with congenital chloride-losing diarrhea. Chloride level was 205 mmol/L.
Renal ultrasonograph of an infant with congenital chloride-losing diarrhea showing diffuse sclerosis.
Severe nephrocalcinosis in a 2-year-old child with Bartter syndrome.
Visible bowel loops in an infant with congenital chloride-losing diarrhea.
 
 
 
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