Results 151 to 160 of about 1,812 (217)

Case Report: Type II Bartter syndrome with a novel <i>KCNJ1</i> variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism. [PDF]

Front Pediatr
Tsui HC, Cheng HT, Lam KY, Leung LT, Au KN, Wong WY, Siu LY, Wong LM.   +7 more
europepmc   +1 more source

Case report of atypical presentation of Bartter's syndrome: hypertension and Hypokalemic nephropathy in a female patient. [PDF]

Oxf Med Case Reports
Odeh EA, Jaradat JH, Amro R, Jankhout S, Nashwan AJ.   +4 more
europepmc   +1 more source

Long-term epidemiological insights into rickets: a nationwide population-based retrospective study. [PDF]

Clin Exp Pediatr
Chu CH, Chen YC, Liu PY, Hu CC, Lin YL, Kuo FC, Lu CH, Hsu TJ, Hung YT, Tsai FJ, Lin CM.   +10 more
europepmc   +1 more source

A Rare Triad of Type 1 Distal Renal Tubular Acidosis, Cryptogenic Multifocal Ulcerous Stenosing Enteritis, and Superior Mesenteric Artery Syndrome in a Young Adult. [PDF]

Cureus
Shehzad N, Anand V, Aggarwal K, Taj SU.
europepmc   +1 more source

Hypokalemic rhabdomyolysis due to concurrent distal renal tubular acidosis and Fanconi syndrome in a pediatric patient with Sjögren syndrome. [PDF]

CEN Case Rep
Watanabe S, Aoki R, Yoshimatsu K, Eguchi M.   +3 more
europepmc   +1 more source

Identification of a Novel Homozygous <i>SLC34A1</i> Missense Mutation and a Heterozygous <i>SLC34A3</i> Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia. [PDF]

Int J Mol Sci
Mura-Escorche G, García-Suarez LC, Lebredo-Álvarez I, Ramos-Trujillo E, Claverie-Martin F.   +4 more
europepmc   +1 more source

Dual Diagnostic Dilemma: Gitelman Syndrome and Incidental Neuroendocrine Tumor in a Young Adult With Refractory Hypokalemia. [PDF]

Cureus
Gapizov A, Syed W, Subhan M, Bibi R, Cheema MU, Mustafa S.   +5 more
europepmc   +1 more source

Brazilian Guidelines on evaluation and clinical management of Nephrolithiasis: Brazilian Society of Nephrology. [PDF]

J Bras Nefrol
Carvalho M, Matos ACC, Santos DRD, Barreto DV, Barreto FC, Rodrigues FG, Pietrobom IG, Luz LGD, Constancio NS, Gomes SA, Heilberg IP.   +10 more
europepmc   +1 more source

Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy

Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively mild ...
openaire  

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source