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Transient neonatal renal tubular acidosis

MedGen UID:
628943
•Concept ID:
C0456042
•
Disease or Syndrome
SNOMED CT: Transient neonatal renal tubular acidosis (276586004)

Professional guidelines

PubMed

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
A glance at transient hyperammonemia of the newborn: Pathophysiology, diagnosis, and treatment: A review.
Ni B, Qin M, Zhao J, Guo Q
Medicine (Baltimore) 2022 Dec 2;101(48):e31796. doi: 10.1097/MD.0000000000031796. PMID: 36482558Free PMC Article

Recent clinical studies

Etiology

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
Development of nephrocalcinosis in very low birth weight infants.
Hein G, Richter D, Manz F, Weitzel D, Kalhoff H
Pediatr Nephrol 2004 Jun;19(6):616-20. Epub 2004 Mar 31 doi: 10.1007/s00467-004-1428-x. PMID: 15054644
Extensive glomerular immaturity associated with renal tubular acidosis, nephrogenic diabetes insipidus and nephrocalcinosis.
Engelhardt G, Zimmermann A, D'Apuzzo V, Oetliker O
Eur Urol 1987;13(3):186-92. doi: 10.1159/000472771. PMID: 3609098

Diagnosis

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome.
Govindarajan S, Khandelwal P, Sharma S, Agarwala A, Sinha A, Hari P, Bagga A
Indian J Pediatr 2023 Feb;90(2):178-180. Epub 2022 Nov 3 doi: 10.1007/s12098-022-04372-0. PMID: 36324017
A glance at transient hyperammonemia of the newborn: Pathophysiology, diagnosis, and treatment: A review.
Ni B, Qin M, Zhao J, Guo Q
Medicine (Baltimore) 2022 Dec 2;101(48):e31796. doi: 10.1097/MD.0000000000031796. PMID: 36482558Free PMC Article
Na(+), K(+), Cl(-), acid-base or H2O homeostasis in children with urinary tract infections: a narrative review.
Bertini A, Milani GP, Simonetti GD, Fossali EF, Faré PB, Bianchetti MG, Lava SA
Pediatr Nephrol 2016 Sep;31(9):1403-9. Epub 2015 Dec 23 doi: 10.1007/s00467-015-3273-5. PMID: 26701834
Transient renal tubular acidosis in pregnancy.
Seoud M, Adra A, Khalil A, Skaff R, Usta I, Salti I
Am J Perinatol 2000;17(5):249-52. doi: 10.1055/s-2000-10006. PMID: 11110342

Therapy

Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome.
Setoodeh A, Rabbani A
Acta Med Iran 2012;50(12):836-8. PMID: 23456528
Gestational therapy with an angiotensin II receptor antagonist and transient renal failure in a premature infant.
Bass JK, Faix RG
Am J Perinatol 2006 Jul;23(5):313-7. Epub 2006 Jun 23 doi: 10.1055/s-2006-947162. PMID: 16799914
Transient neonatal distal renal tubular acidosis with secondary hyperparathyroidism.
Igarashi T, Sekine Y, Kawato H, Kamoshita S, Saigusa Y
Pediatr Nephrol 1992 May;6(3):267-9. doi: 10.1007/BF00878365. PMID: 1616837
Congenital renal tubular dysfunction associated with maternal sniffing of organic solvents.
Lindemann R
Acta Paediatr Scand 1991 Aug-Sep;80(8-9):882-4. doi: 10.1111/j.1651-2227.1991.tb11967.x. PMID: 1957611
Hyperechoic renal medullary pyramids in infants and children.
Shultz PK, Strife JL, Strife CF, McDaniel JD
Radiology 1991 Oct;181(1):163-7. doi: 10.1148/radiology.181.1.1887027. PMID: 1887027

Prognosis

A glance at transient hyperammonemia of the newborn: Pathophysiology, diagnosis, and treatment: A review.
Ni B, Qin M, Zhao J, Guo Q
Medicine (Baltimore) 2022 Dec 2;101(48):e31796. doi: 10.1097/MD.0000000000031796. PMID: 36482558Free PMC Article
Gestational therapy with an angiotensin II receptor antagonist and transient renal failure in a premature infant.
Bass JK, Faix RG
Am J Perinatol 2006 Jul;23(5):313-7. Epub 2006 Jun 23 doi: 10.1055/s-2006-947162. PMID: 16799914
Development of nephrocalcinosis in very low birth weight infants.
Hein G, Richter D, Manz F, Weitzel D, Kalhoff H
Pediatr Nephrol 2004 Jun;19(6):616-20. Epub 2004 Mar 31 doi: 10.1007/s00467-004-1428-x. PMID: 15054644
Extensive glomerular immaturity associated with renal tubular acidosis, nephrogenic diabetes insipidus and nephrocalcinosis.
Engelhardt G, Zimmermann A, D'Apuzzo V, Oetliker O
Eur Urol 1987;13(3):186-92. doi: 10.1159/000472771. PMID: 3609098

Clinical prediction guides

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
Development of nephrocalcinosis in very low birth weight infants.
Hein G, Richter D, Manz F, Weitzel D, Kalhoff H
Pediatr Nephrol 2004 Jun;19(6):616-20. Epub 2004 Mar 31 doi: 10.1007/s00467-004-1428-x. PMID: 15054644

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