PubMed Health⌕ Search

PubMed · 9493225

[Growth and renal function].

Abstract

Some genetic conditions, as cystinosis, familial hypophosphataemic rickets, type-I vitamin D-resistant rickets and renal tubular acidosis have an impact on growth and growth failure is one of the major problem in children with chronic renal failure (CRF). In early childhood, anorexia and malnutrition, electrolyte disturbances and metabolic acidosis are the main contributing factors for reduced growth, whereas renal osteodystrophy, anemia and hormonal disturbances are responsible for growth impairment later and during puberty. During infancy, loss of growth potential can be prevented by adequate nutrition. Later in life, catch-up growth cannot be induced by nutritional intervention or dialysis and renal transplantation allows catch-up growth in only a small percentage of patients. There is evidence for a state of resistance to growth hormone (GH) and insulin-like growth factor-I (IGF-I) in CRF. GH secretion is normal, but GH half-life is prolonged and the binding activity of the GH-binding protein is reduced, which points to a low receptor expression. IGF-I production may be diminished and the serum concentration of IGF-binding proteins (IGFBP-1 and 3) is increased. The imbalance between normal IGF-I and excessive IGFBP serum levels results in decreased IGF bioactivity that plays a pathogenic role in the growth failure. This insensitivity seems to be overcome by supraphysiological doses of recombinant human GH (rhGH). Many clinical studies have confirmed that rhGH increases growth velocity in children with CRF with and without dialysis and after renal transplant, without significant side-effects. The improvement of growth is more marked in prepubertal patients and during the first year of rhGH treatment. Long-term rhGH treatment in children with CRF improves the growth potential of children, achieving target adult height. The Authors discuss the recent studies employing rhGH in renal diseases and attempt to give some guide lines to rhGH treatment in these illnesses.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

F Antoniazzi, F Mengarda, S Lauriola, A Serra, G Zamboni, L Tatò. [Growth and renal function].. https://pubmed.ncbi.nlm.nih.gov/9493225/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.

We have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the anion exchanger 1 (AE1) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients. It is thus of interest to examine the prevalence of these mutations in the Thai population. The SAO and G701D mutations were examined in 844 individuals from north, northeast, central, and south Thailand. Other reported mutations including R602H, DeltaV850, and A858D were also examined in some groups of subjects. The SAO mutation was common in the southern Thai population; its heterozygote frequency was 7/206 and estimated allele frequency 1.70%. However, this mutation was not observed in populations of three other regions of Thailand. In contrast, the G701D mutation was not found in the southern population but was observed in the northern, northeastern, and central populations, with heterozygote frequencies of 1/216, 3/205, and 1/217, and estimated allele frequencies of 0.23%, 0.73%, and 0.23%, respectively. The higher allele frequency of the G701D mutation in the northeastern Thai population corresponds to our previous finding that all Thai patients with AR dRTA attributable to homozygous G701D mutation originate from this population. This suggests that the G701D allele that is observed in this region might arise in northeastern Thailand. The presence of patients with compound heterozygous SAO/G701D in southern Thailand and Malaysia and their apparently absence in northeastern Thailand indicate that the G701D allele may have migrated to the southern peninsular region where SAO is common, resulting in pathogenic allelic interaction.

Acidosis, Renal Tubular↗

A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.

Anion exchanger 1 (AE1 or SLC4A1) mutations have been reported to cause distal renal tubular acidosis (dRTA), a disease characterized by impaired acid excretion in the distal nephron. We have recently demonstrated homozygous AE1 G701D mutation as a common molecular defect of autosomal recessive (AR) dRTA in a group of Thai pediatric patients. In the present work, we discovered a de novo heterozygous AE1 R589C mutation, previously documented in inherited autosomal dominant (AD) dRTA. Arginine at this position is conserved in all vertebrate AE proteins indicating its functional importance. Three different mutations at this position (R589C, R589H, and R589S) were all found in AD dRTA and a de novo R589H mutation has previously been recorded. Our report is the second de novo mutation but with a different substituted amino acid. A high prevalence of AE1 R589 mutations and the presence of at least two de novo mutations at this position lead us to propose that codon 589 (CGC) is a "mutational hotspot" of AE1. The mechanism of recurrent mutations probably involves methylation and deamination altering cytosine (C) to thymine (T) in the CpG dinucleotides.

Acidosis, Renal Tubular↗