Results 21 to 30 of about 2,424,136 (181)
Kidney International, 2021 Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis and low to normal blood pressure.
M. Konrad +13 more
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A Case of Adult onset Bartter Syndrome with Nephrocalcinosis [PDF]
Kosin Medical Journal, 2014 Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism, normal blood pressure, and other clinical symptoms.
Min Gyu Park +5 more
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The American journal of case reports, 2022 Patient: Male, 28-year-old Final Diagnosis: Congenital chloride diarrhea Symptoms: Alkalosis • diarrhea • hypokalemia Medication: — Clinical Procedure: — Specialty: Nephrology Objective: Rare disease Background: Congenital chloride diarrhea (CCD) is an ...
Laila F. Sadagah +2 more
semanticscholar +1 more source
A Novel Homozygous Mutation of Classic Bartter Syndrome Presenting with Renal Cysts in 6-year-Old Identical Twin Boys : A Case Report [PDF]
Childhood Kidney Diseases, 2021 Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene.
Min Hwa Son, Hyung Eun Yim, Kee Hwan Yoo
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Neonatal Bartter syndrome [PDF]
The Indian Journal of Pediatrics, 2002 A case of neonatal Bartter syndrome is reported. The baby born pre-term following a pregnancy complicated by polyhydramnios, presented at 7 months of age with failure to thrive, gastroenteritis and facial dysmorphisms. An unusual feature was the absence of the classical biochemical abnormality of hypochloremic alkalosis early in the course of the ...
Mamta N, Muranjan +4 more
openaire +2 more sources
Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate
Bagcilar Medical Bulletin, 2023 Bartter syndrome is an uncommon autosomal recessive, salt-losing renal tubular disease. Its defining features are numerous electrolyte abnormalities, including low potassium and chloride levels, metabolic alkalosis, and low or normal blood pressure.
Çağrı Cumhur Gök +4 more
doaj +1 more source
Type-5 Bartter syndrome presenting with metabolic seizure in adulthood
BMJ Case Reports, 2021 Bartter syndrome is a very rare and heterogeneous disease with variable age of onset and symptom severity. Genotypically they have inherited disorders of the thick ascending limb in the renal tubular system, which manifest phenotypically as electrolyte ...
Aqeel Hussain +3 more
semanticscholar +1 more source
BMJ Case Reports, 2021 Cystinosis is a multisystem disorder with varied presentations secondary to deposition of cystine crystals in different organ systems. Children with cystinosis typically present with renal tubular acidosis and failure to thrive.
G. Das, P. Nanda, A. Kaur, Rakesh Kumar
semanticscholar +1 more source
Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C [PDF]
Korean Journal of Pediatrics, 2015 The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney.
Keun Hee Choi +3 more
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Medullary Nephrocalcinosis – Unraveling a Mystery
Indian Journal of Kidney Diseases, 2023 This is a case report of Bartter syndrome type 2 being diagnosed in an adult patient during evaluation for end stage kidney disease. This 29-year old woman first presented during her first pregnancy with proteinuria and on evaluation she was found to ...
S. Ravitej +4 more
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