Results 121 to 130 of about 8,162 (152)

The Dawn of Precision Medicine in Pediatric Nephrology: Lumasiran and the Era of siRNA Therapies for Primary Hyperoxaluria Type 1. [PDF]

J Pers Med
Dotis J, Fourikou M.
europepmc   +1 more source

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report. [PDF]

Case Rep Nephrol Dial
Del Prete D, Ceol M, Giannella A, Ceolotto G, Sgrò E, Priante G, Fedrigo M, Anglani F, Nalesso F.   +8 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

Distal Renal Tubular Acidosis: A Conundrum of Short Stature, Failure to Thrive, Rickets, and Nephrocalcinosis. [PDF]

Cureus
Singhania P, Ponnusamy R, Dhar A, Agarwal A, Santra G.   +4 more
europepmc   +1 more source

Distal Renal Tubular Acidosis With Sensorineural Deafness in a Saudi Female: A Case Report of an ATP6V1B1 Mutation in a Consanguineous Family. [PDF]

Cureus
Alrasheed A, Alyabis N, Alrasheed SA, Alrasheed R.   +3 more
europepmc   +1 more source

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Nephrocalcinosis

Clinics in Perinatology, 1992
The pathogenesis of NC in VLBW infants appears to be multifactorial. The vulnerability of extreme immaturity and the underdevelopment of renal function may be the most important variables. In some ways, we view this problem as similar to that of retinopathy of prematurity.
N D, Adams, J C, Rowe
openaire   +2 more sources

Acetazolamide-induced nephrocalcinosis

Abdominal Imaging, 1994
Nephrocalcinosis has been reported in patients treated with acetazolamide and other agents, such as furosemide or bicarbonate. We present a case of nephrocalcinosis induced solely by acetazolamide and diagnosed radiographically. Possible mechanisms of pathogenesis are reviewed.
J R, Parikh, R L, Nolan
openaire   +2 more sources

Nephrocalcinosis

Current Opinion in Pediatrics, 1997
The routine use of ultrasonography has resulted in an explosion in the number of conditions reported to be associated with nephrocalcinosis. It has also been increasingly recognized that urolithiasis and nephrocalcinosis can coexist in the same patient.
  +6 more sources

[Nephrocalcinosis].

Clinical calcium, 2005
Nephrocalcinosis is used to describe renal parenchymal calcification. Causes of nephrocalcinosis include persistent hypercalcemia, hypercalciuria, acid-base disorders, hyperoxaluria and urinary stasis. Patients with nephrocalcinosis initially present no symptom.
openaire   +3 more sources