SIGNIFICANT CLINICAL IMPROVEMENT OF PAEDIATRIC AND ADULT PATIENTS WITH DISTAL RENAL TUBULAR ACIDOSIS AFTER 6 YEARS OF TREATMENT WITH SIBNAYAL®

被引：0

作者：

Bertholet-Thomas, Aurelia ^{[1
]}

Bernardor, Julie ^{[2
]}

Roussey-Kesler, Gwenaelle ^{[3
]}

Podracka, Ludmila ^{[4
]}

Novo, Robert ^{[5
]}

Nobili, Francois ^{[6
]}

Knebelmann, Bertrand ^{[7
]}

Harambat, Jerome ^{[8
]}

Golubovic, Emilija ^{[9
]}

Boyer, Olivia ^{[10
]}

Maio, Massimo D. I. ^{[11
]}

Cailliez, Mathilde ^{[12
]}

Baudoin, Veronique ^{[13
]}

Bacchetta, Justine ^{[1
]}

机构：

[1] Hop Femme Mere Enfant, Hosp Civils Lyon, Ctr Reference Maladies Renales Rares Nephrogones, ERKNet, Bron, France

[2] Unite Nephrol Pediat, Nice, France

[3] CHU Nantes, Clin Med Pediat Hop Mere-Enfant, Unite Nephrol & Hemodialyse Pediat, Nantes, France

[4] Univ Pavol Jozef Safarik Kosice, Kosice, Slovakia

[5] CHRU Lille, Lille, France

[6] CHU Besancon, Besancon, France

[7] Hop Necker Enfants Malad, Paris, France

[8] CHU Bordeaux, Bordeaux, France

[9] Klin Ctr Nis, Klin Detiie Interne bolesti, Belgrade, Serbia

[10] Hop Necker EEnfants Malades, Paris, France

[11] CHU Nimes, Nimes, France

[12] APHM, Marseille, France

[13] Hop Robert Debre, Paris, France

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2023年 / 38卷

关键词：

D O I：

暂无

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

6649

引用

页码：I394 / I394

页数：1

共 43 条

[21] ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families
Uzak, Asli Subasioglu
Cakar, Nilgun
Comak, Elif
Yalcinkaya, Fatos
Tekin, Mustafa
RENAL FAILURE, 2013, 35 (09) : 1281 - 1284
[22] Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis
Miura, Kenichiro
Sekine, Takashi
Takahashi, Kazuhiro
Takita, Junko
Harita, Yutaka
Ohki, Kentaro
Park, Myoung-Ja
Hayashi, Yasuhide
Tajima, Asako
Ishihara, Masayuki
Hisano, Masataka
Murai, Miki
Igarashi, Takashi
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2013, 28 (08) : 2123 - 2130
[23] Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis
Miura, Kenichiro
Sekine, Takashi
Takahashi, Kazuhiro
Takita, Junko
Harita, Yutaka
Tajima, Asako
Ishihara, Masayuki
Hisano, Masataka
Murai, Miki
Igarashi, Takashi
PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1359 - 1359
[24] Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene
Boualla, L.
Jdioui, W.
Soulami, K.
Ratbi, I.
Sefiani, A.
CURRENT RESEARCH IN TRANSLATIONAL MEDICINE, 2016, 64 (01) : 5 - 8
[25] A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis
Imai, Eri
Kaneko, Shuzo
Mori, Takayasu
Okado, Tomokazu
Uchida, Shinichi
Tsukamoto, Yusuke
CLINICAL KIDNEY JOURNAL, 2016, 9 (03): : 424 - 428
[26] Improved growth of a child with primary distal renal tubular acidosis after switching from a conventional alkalizing treatment to a new prolonged-release formulation containing potassium citrate and potassium bicarbonate: lessons for the clinical nephrologist
Olivia Boyer
Maria A. Manso-Silván
Sophie Joukoff
Romain Berthaud
Catherine Guittet
Journal of Nephrology, 2022, 35 : 2119 - 2122
[27] Improved growth of a child with primary distal renal tubular acidosis after switching from a conventional alkalizing treatment to a new prolonged-release formulation containing potassium citrate and potassium bicarbonate: lessons for the clinical nephrologist
Boyer, Olivia
Manso-Silvan, Maria A.
Joukoff, Sophie
Berthaud, Romain
Guittet, Catherine
JOURNAL OF NEPHROLOGY, 2022, 35 (08) : 2119 - 2122
[28] A NOVEL ASSOCIATION BETWEEN VAL2ALA MISSENSE MUTATION IN ATP6V0A4 GENE AND GLAUCOMA, PHACODONESIS AND CATARACT IN PATIENTS WITH DISTAL RENAL TUBULAR ACIDOSIS
Sav, Nadide Melike
Yildiz, Bilal
Yildirim, Nilgun
PEDIATRIC NEPHROLOGY, 2015, 30 (09) : 1671 - 1671
[29] RE-INSTITUTION OF DIETARY-TREATMENT IN A PKU ADULT PATIENTS - CLINICAL AND MRI IMPROVEMENT AFTER ONE-YEAR
ZAMMARCHI, E
MORRONE, A
DONATI, MA
PASQUINI, E
FONDA, C
AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 965 - 965
[30] Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
Feldman, M
Prikis, M
Athanasiou, Y
Elia, A
Pierides, A
Deltas, CC
CLINICAL GENETICS, 2006, 69 (02) : 135 - 144

← 1 2 3 4 5 →