MyMedR

Fulltext Distal renal tubular acidosis and hereditary elliptocytosis in a single family

Thong MK, Tan AA, Lin HP

Singapore Med J, 1997 Sep;38(9):388-90.

Distal renal tubular acidosis (RTA) and hereditary elliptocytosis (HE) are apparently distinct, genetic conditions. We report a family with 3 children having both hereditary elliptocytosis and distal renal tubular acidosis. The simultaneous occurrence of these two conditions in three siblings could be due to covariations in the same family, although a possible contiguous gene syndrome for distal RTA and HE cannot be excluded. This report emphasises the importance of excluding a renal tubular defect in any child who presents with elliptocytosis and failure to thrive.

Matched MeSH terms: Acidosis, Renal Tubular/complications*; Acidosis, Renal Tubular/genetics*

Case report of renal tubular acidosis presenting with periodic paralysis

Devadason I

Med J Malaysia, 1976 Sep;31(1):75-6.

PMID: 1023019

Matched MeSH terms: Acidosis, Renal Tubular/complications*

Fulltext Amide proton transfer imaging in stroke

Heo HY, Tee YK, Harston G, Leigh R, Chappell MA

NMR Biomed, 2023 Jun;36(6):e4734.

PMID: 35322482 DOI: 10.1002/nbm.4734

Amide proton transfer (APT) imaging, a variant of chemical exchange saturation transfer MRI, has shown promise in detecting ischemic tissue acidosis following impaired aerobic metabolism in animal models and in human stroke patients due to the sensitivity of the amide proton exchange rate to changes in pH within the physiological range. Recent studies have demonstrated the possibility of using APT-MRI to detect acidosis of the ischemic penumbra, enabling the assessment of stroke severity and risk of progression, monitoring of treatment progress, and prognostication of clinical outcome. This paper reviews current APT imaging methods actively used in ischemic stroke research and explores the clinical aspects of ischemic stroke and future applications for these methods.

Matched MeSH terms: Acidosis*

Fulltext Adult pyloric stenosis masquerading as acute renal failure

Siow SL, Wong CM, Sohail M

Med J Malaysia, 2009 Jun;64(2):168-9.

PMID: 20058581 MyJurnal

Gastric outlet obstruction and in particular, pyloric stenosis, is relatively common in developing countries. Acute clinical presentation is often the manifestation of biochemical and electrolyte changes. The presence of metabolic alkalosis in combination with acute renal failure should alarm us to the possibility of adult pyloric stenosis. We report a case of adult pyloric stenosis that presented as acute renal failure and discuss its pathophysiology.

Matched MeSH terms: Acidosis/etiology

Fulltext An unusual case of metformin associated lactic acidosis

Poulose V

Med J Malaysia, 2002 Jun;57(2):209-10.

PMID: 24326653

Metformin Associated Lactic Acidosis (MALA) is a rare, but serious complications of Type 2 diabetes mellitus treatment with a mortality rate of around 50%. It most commonly occurs in the setting of hepatic, cardiac or renal insufficiency. We report the case of an elderly female with MALA and concomitant starvation ketosis in the absence of any known risk factor, who went undiagnosed for a period of at least a month and made a complete recovery in the hospital.

Matched MeSH terms: Acidosis, Lactic*

Fulltext Safe delivery of two parturient women in severe metabolic acidosis

Shariffuddin II, Rai V, Chan YK, Muniandy RK

BMJ Case Rep, 2014;2014.

PMID: 24862427 DOI: 10.1136/bcr-2014-205135

Care of an acutely ill parturient is particularly difficult when we have to balance the needs of both mother and the fetus to survive. The literature suggests there should be emphasis on stabilising the mother's condition. In dealing with metabolic acidosis, however, we believe delivering the baby early might not only relieve the threat of the acidosis on the mother, it may be the only way to deliver a live baby. We report two parturient women with severe metabolic acidosis which was considerably reduced very soon after the delivery and how our timely delivery resulted in the birth of two neurologically intact babies.

Matched MeSH terms: Acidosis/etiology; Acidosis/therapy; Diabetic Ketoacidosis/therapy*

Distal renal tubular acidosis in HIV/AIDS patient

Isa WY, Daud KM

Intern. Med., 2011;50(16):1765-8.

PMID: 21841342

We report a case of renal tubular acidosis (RTA) in a patient with HIV infection and AIDS. A 33-year-old HIV-positive man with Hepatitis C and tuberculous lymphadenitis was admitted due to deep venous thrombosis and generalized muscle weakness. He had never received anti-retroviral medication. The blood gases and serum electrolytes showed hyperchloremic normal anion gap metabolic acidosis with severe hypokalemia and alkaline urine. Diagnosis of distal RTA was made. His renal function and serum globulin level remained within normal range throughout his illness. Clinicians should be alert to renal tubular disorders in HIV/AIDS patients even in the absence of anti-retroviral therapy or hypergammaglobulinemic state.

Matched MeSH terms: Acidosis, Renal Tubular/complications*; Acidosis, Renal Tubular/diagnosis*

Fulltext Lactic acidosis in HIV patients receiving highly active antiretroviral therapy

Chow YW, Leong CL, Chow HL, Hooi LS

Med J Malaysia, 2007 Mar;62(1):78-80.

PMID: 17682581

Exposure to highly active antiretroviral therapy (HAART) may lead to adverse effects related to mitochondrial toxicity such as lactic acidosis. We describe two cases of severe lactic acidosis in HIV-positive patients to illustrate the clinical symptoms and abnormal laboratory results associated with this condition. There is a lack of awareness about the risk factors for developing severe lactic acidosis and recognition of its onset with dire consequences.

Matched MeSH terms: Acidosis, Lactic/chemically induced*; Acidosis, Lactic/physiopathology

Acute myopathy after status asthmaticus: steroids, myorelaxants or carbon dioxide?

Goh AY, Chan PW

Respirology, 1999 Mar;4(1):97-9.

PMID: 10339738

Acute myopathy complicating treatment of status asthmaticus has been increasingly recognized since its original description in 1977. We report a case of an 11-year-old boy with severe asthma requiring mechanical ventilation. He was given high doses of parenteral steroids and neuromuscular blockade with non-depolarizing agents in order to achieve controlled hypoventilation with an ensuing hypercapnoea. He developed rhabdomyolysis with elevated creatinine kinase and renal impairment secondary to myoglobinuria. Electrophysiological studies revealed myopathic abnormalities. The aetiology for this myopathy appears to be related to therapy with parenteral steroids, muscle-relaxant agents and respiratory acidosis. Patients treated with steroids and neuromuscular blocking agents should be regularly monitored for development of myopathy.

Matched MeSH terms: Acidosis/complications*; Acidosis/etiology

The syndrome of hyperosmolar non-ketotic diabetic acidosis following craniotomy: a case report

Arumugasamy N, Siqueira EB

Med J Malaya, 1970 Dec;25(2):155-60.

PMID: 4251137

Matched MeSH terms: Acidosis/complications; Acidosis/etiology*; Diabetic Ketoacidosis

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

Yenchitsomanus PT, Sawasdee N, Paemanee A, Keskanokwong T, Vasuvattakul S, Bejrachandra S, et al.

J Hum Genet, 2003;48(9):451-456.

PMID: 12938018 DOI: 10.1007/s10038-003-0059-6

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.

Matched MeSH terms: Acidosis, Renal Tubular/genetics*; Acidosis, Renal Tubular/epidemiology

High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis

Yusoff NM, Van Rostenberghe H, Shirakawa T, Nishiyama K, Amin N, Darus Z, et al.

J Hum Genet, 2003;48(12):650-653.

PMID: 14618420 DOI: 10.1007/s10038-003-0095-2

Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis (dRTA) in Malays in Kelantan, Malaysia. Twenty-two patients with dRTA and 50 healthy volunteers were examined for complication of SAO by both morphological and genetic analyses. SAO was identified in 18 of the 22 dRTA patients (81.8%), but only two of the 50 controls (4%). The incidence of SAO was significantly high in those with dRTA (p<0.001), indicating a dysfunctional role for band 3 protein/anion exchanger 1 in the development of dRTA.

Matched MeSH terms: Acidosis, Renal Tubular/complications; Acidosis, Renal Tubular/genetics*

Metabolic acidosis and renal solute load in relation to the protein intake of low birth weight Malaysian neonates

Johnson RO, Johnson BH, Raman A, Lee EL, Lam KL

Aust Paediatr J, 1979 Jun;15(2):101-6.

PMID: 485988

Matched MeSH terms: Acidosis/etiology*; Acidosis/metabolism

Fulltext Rhabdomyolysis associated with hypokalaemic periodic paralysis of renal tubular acidosis

Hanip MR, Cheong IK, Chin GL, Khalid BA

Singapore Med J, 1990 Apr;31(2):159-61.

PMID: 2371581

Two cases of hypokalaemia with serum potassium levels of 1.4 mmol/L and 1.9 mmol/L causing severe periodic paralysis since childhood are presented. There were associated with muscular aches and markedly raised muscle enzymes suggesting massive rhabdomyolysis. These abnormalities were due to renal tubular acidosis with markedly acidic arterial pH. The hypokalaemia and rhabdomyolysis responded to potassium and bicarbonate replacement. We postulate these patients had sporadic distal type of renal tubular acidosis and that the hypokalaemia and acidosis had caused the rhabdomyolysis.

Matched MeSH terms: Acidosis, Renal Tubular/complications*; Acidosis, Renal Tubular/physiopathology

Fulltext Bilateral Proximal Femur Fractures in a Patient with Renal Tubular Acidosis: A Case Report

Charl SS, Shahrul-Hisham S, Mohamad-Sha S

Malays Orthop J, 2018 Mar;12(1):42-44.

PMID: 29725512 MyJurnal DOI: 10.5704/MOJ.1803.009

The diagnosis of pathological fractures is on the rise. The morbidity involved does not only burden the patient and their families but it has a great toll on the healthcare system as well. Early identification of the patient at risk is an invaluable tool to cut cost and improve the patient's quality of life. Multiple renal pathologies have been highlighted in relation to the risk of pathological fractures; however, complications in renal tubular acidosis have been rarely documented. Nevertheless, prompt action with adequate and relevant patient education ultimately can reduce the associated morbidity. We present a case of poor control of the disease and its debilitating pathological fracture complications.

Matched MeSH terms: Acidosis, Renal Tubular

A case of supercarbia following pneumoperitoneum in an infant

Lew YS, Thambi Dorai CR, Phyu PT

Paediatr Anaesth, 2005 Apr;15(4):346-9.

PMID: 15787930

A 4-month-old healthy male infant underwent left herniotomy under general anesthesia with caudal block. Carbon dioxide (CO2) pneumoperitoneum was created through the left hernial sac for inspection of the right processus vaginalis. Episodes of desaturation associated with significant reduction in chest compliance were noted intraoperatively. This was overcome by increasing the inspired oxygen concentration (FiO2). The infant failed to regain consciousness and spontaneous respiration at the end of surgery. The chest compliance deteriorated further and clinically a CO2 pneumothorax (capnothorax) was suspected. The endtidal carbon dioxide (P(E)CO2) was initially low in the immediate postoperative period. Subsequent to the readministration of sevoflurane and manual ventilation with a Jackson Rees circuit, a sudden surge in P(E)CO2 with improvement of chest compliance was observed. At that time arterial blood gas (ABG) analysis revealed a PCO2 of 17.5 kPa (134 mmHg) and pH of 6.9. The causes of severe hypercarbia and the physiological changes observed in this infant are discussed.

Matched MeSH terms: Acidosis/etiology

Fulltext Long term lithium therapy in Malaysia

Ngen CC, Cheong IK

Med J Malaysia, 1989 Sep;44(3):199-203.

PMID: 2626134

Ten patients on long term lithium therapy (mean four years, range 1-10.5 years) were subjected to various renal, thyroid, haematological, cardiac and endocrine tests. There was impaired urinary concentrating ability in seven subjects, which was not responsive to vasopressin stimulation, suggesting a partial nephrogenic diabetes insipidus. Nine subjects had metabolic acidosis with higher urinary pH than expected suggesting presence of acidification defect in the kidney. No significant change in renal function, thyroid function, ECG or haematological parameters were detected. Our findings concur with previous reports from the West regarding the safety of lithium administration.

Matched MeSH terms: Acidosis/chemically induced

Effects of metabolic acidosis--a review with case reports

Khawaja AA

Med J Malaya, 1971 Mar;25(3):229-33.

PMID: 4253255

Matched MeSH terms: Acidosis/complications*

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations

Choo KE, Nicoli TK, Bruce LJ, Tanner MJ, Ruiz-Linares A, Wrong OM

Pediatr Nephrol, 2006 Feb;21(2):212-7.

PMID: 16252102

Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE1 mutation or by compound heterozygosity of two different AE1 mutations. We describe two unrelated boys in Sarawak with dRTA associated with compound heterozygosity of AE1 mutations. Both had Southeast Asian ovalocytosis (SAO), a morphological abnormality of red cells caused by a deletion of band 3 residues 400-408. In addition, one boy had a DNA sequence abnormality of band 3 residue (G701D), which has been reported from elsewhere in Southeast Asia. The other boy had the novel sequence abnormality of band 3 (Q759H) and profound hemolytic anemia.

Matched MeSH terms: Acidosis, Renal Tubular/genetics*

In silico identification of genes involved in chronic metabolic acidosis

Sheikh IA, Malik A, AlBasri SFM, Beg MA

Life Sci, 2018 Jan 01;192:246-252.

PMID: 29138116 DOI: 10.1016/j.lfs.2017.11.014

AIMS: Chronic metabolic acidosis (CMA) refers to increased plasma acidity due to disturbed acid-base equilibrium in human body. CMA leads to many dysfunctions including disorders of intestinal metabolism and barrier functions. The human body responds to these intestinal dysfunctions by creating a compensatory mechanism at genomic level in intestinal epithelial cells. This study was to identify the molecular pathways involved in metabolic dysfunction and compensatory adaptations in intestinal epithelium during CMA.

MAIN METHODS: In silico approaches were utilized to characterize a set of 88 differentially expressed genes (DEGs) from intestinal cells of rat CMA model. Interaction networks were constructed for DEGs by GeneMANIA and hub genes as well as enriched clusters in the network were screened using GLay. Gene Ontology (GO) was used for enriching functions in each cluster.

KEY FINDINGS: Four gene hubs, i.e., trefoil factor 1, 5-hydroxytryptamine (serotonin) receptor 5a, solute carrier family 6 (neurotransmitter transporter), member 11, and glutamate receptor, ionotropic, n-methyl d-aspartate 2b, exhibiting the highest node degree were predicted. Six biologically related gene clusters were also predicted. Functional enrichment of GO terms predicted neurological processes such as neurological system process regulation and nerve impulse transmission which are related to negative and positive regulation of digestive system processes., intestinal motility and absorption and maintenance of gastrointestinal epithelium.

SIGNIFICANCE: The study predicted several important genomic pathways that potentially play significant roles in metabolic disruptions or compensatory adaptations of intestinal epithelium induced by CMA. The results provide a further insight into underlying molecular mechanisms associated with CMA.

Matched MeSH terms: Acidosis/genetics*

Displaying publications 1 - 20 of 49 in total