PMID: 44068Nov 1, 1979

Congenital persistent proximal type renal tubular acidosis in two brothers

Acta paediatrica Scandinavica
A WinsnesT Feyling

Abstract

Two brothers showed severe and persistent hyperchloraemic metabolic acidosis (capillary blood pH 7.07--7.15) due to a low renal bicarbonate threshold at 11 mmol/l. The maximal tubular capacity for bicarbonate reabsorption was reduced to about half the normal. A high dose of acetazolamide (25 mg/kg) lowered the tubular bicarbonate reabsorption substantially, indicating the presence of carbonic anhydrase. Both the glomerular filtration rate, the renal blood flow and the renal concentrating capacity were slightly reduced. The clinical characteristics were: growth retardation, mental retardation, nystagmus, corneal opacities, cataract, glaucoma and enamel defects of the permanent teeth. Serum thyroxine was pathological low without clinical signs of hypothyreosis. The erythrocytes showed an increased osmotic resistance. Autopsy of the younger brother, who died 4 1/2 years old, revealed thyroid and thymus weights of 25% of the normal. The kidney tubular cells were swollen with vacuoles. The glomeruli had a normal appearance.

References

May 6, 2006·European Journal of Oral Sciences·Charles E SmithPierre Moffatt
Jun 10, 2010·The Journal of Biological Chemistry·Rodrigo S LacruzMichael L Paine
Jul 30, 2016·Journal of the American Society of Nephrology : JASN·R Todd AlexanderDominique Eladari
Oct 24, 2001·Journal of Child Neurology·G DedaN Tümer
Feb 20, 2019·Journal of Dental Research·H ZhangJ C C Hu
May 2, 2019·Journal of the American Society of Nephrology : JASN·Emily E SalernoMark D Parker
Feb 1, 1994·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·T IgarashiK Ohga
Dec 1, 1984·Scandinavian Journal of Dental Research·H S KoppangO Stokke
Feb 1, 1996·Biochemical Genetics·S TamaiW S Sly
Jul 4, 2001·The Journal of Clinical Investigation·T UsuiG Seki

Citations

Dec 1, 1975·The Journal of Clinical Investigation·A MercadoS Klahr
Aug 1, 1977·The American Journal of Medicine·L G BrenesM M Hernandez
May 1, 1972·Kidney International·R C Morris, E McSherry
Jan 1, 1969·Annual Review of Medicine·J Rodriguez-Soriano, C M Edelmann
Dec 18, 1969·The New England Journal of Medicine·R C Morris
May 1, 1971·Pediatric Clinics of North America·J Rodriguez-Soriano
Dec 1, 1970·Archives of Disease in Childhood·R A DonckerwolckeH A Tiddens
Apr 1, 1968·The Journal of Clinical Investigation·R A Cooper, J H Jandl
Dec 1, 1967·The Journal of Pediatrics·J R SorianoC M Edelmann

Related Concepts

Cataract
Electrolytes
Acetazolamide Sodium, (Sterile)
Renal Tubular Acidosis
Renal Tubular Acidosis, Type II
Fetal Growth Retardation
Carbonic Acid Ions
Anion Gap
Congenital Nystagmus
Corneal Opacity

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.

Related Papers

The British Journal of Ophthalmology
Y Wakabayashi
Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
F SantosG Orejas
Critical Care and Resuscitation : Journal of the Australasian Academy of Critical Care Medicine
D A Story
Developmental Medicine and Child Neurology
C H Ko, C K Kong
© 2020 Meta ULC. All rights reserved