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119 Possible Causes for Hyperchloremic Metabolic Acidosis (HCO3: 17.6±1.5 mM, Recessive)

Did you mean: Hyperchloremic Metabolic Acidosis, , HCO3, 17.6±1.5 mM, Recessive)

  • Distal Renal Tubular Acidosis

    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.[ncbi.nlm.nih.gov] BACKGROUND: Primary distal renal tubular acidosis is a clinical disorder characterized by hyperchloremic metabolic acidosis, hypercalciuria, hypocitraturia, urinary acidification[ncbi.nlm.nih.gov] While the disease shows autosomal dominant inheritance without any red cell morphological abnormalities in the temperate countries, it is almost invariably recessive, and[ncbi.nlm.nih.gov]

  • Renal Tubular Acidosis

    Abstract Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a recessively inherited syndrome in 1972.[doi.org] Hyperchloremic metabolic acidosis with normal anion gap determined in blood gas analyze.[ncbi.nlm.nih.gov] Inborn dRTA can be due to autosomal dominant or recessive gene defects.[ncbi.nlm.nih.gov]

  • Proximal Renal Tubular Acidosis

    Autosomal dominant and autosomal recessive pRTA are usually permanent; life-long alkali therapy is needed.[ncbi.nlm.nih.gov] Investigations revealed features of pRTA including hypokalemia and non-anion-gap hyperchloremic metabolic acidosis. His urine pH dropped to 5 with NH4Cl loading test.[ncbi.nlm.nih.gov] On arrival, laboratory test results were significant for hypokalemia, hyperchloremic metabolic acidosis, low uric acid concentration, positive urine anion gap, and proteinuria[ncbi.nlm.nih.gov]

  • Autosomal Dominant Distal Renal Tubular Acidosis

    Absence of Linkage and Mutation in Recessive dRTA.[pnas.org] metabolic acidosis often but not always associated with hypokalemia.EpidemiologyThe prevalence is unknown.Clinical descriptionDisease onset occurs in adolescence or adulthood[malacards.org] metabolic acidosis.[mdnxs.com]

  • Nephronophthisis 1

    Abstract Nephronophthisis is a recessive cystic renal disease that leads to end-stage renal failure in the first two decades of life.[ncbi.nlm.nih.gov] metabolic acidosis 高クロール性代謝性アシドーシス hypogastric 下腹部の hypogastric nerve 下腹神経 i ileal conduit 回腸導管 ileum 回腸 immunosuppressive drug免疫抑制薬 impotenceインポテンツ infertility不妊症、不妊[性][tokyo-med.ac.jp] Abstract Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases.[ncbi.nlm.nih.gov]

  • Hyporeninemic Hypoaldosteronism

    […] enzyme defect (most often CYP11B2 [aldosterone synthase, P450c11as] deficiency), or pseudohypoaldosteronism, a rare genetic disorder of aldosterone resistance, the autosomal recessive[checkorphan.org] Hyperkalemic hyperchloremic metabolic acidosis developed in a patient with posttransplantation renal insufficiency presumably related to allograft rejection.[ncbi.nlm.nih.gov] There is an autosomal recessive form, and an autosomal dominant or sporadic form.[hopkinsguides.com]

  • Nephronophthisis 13

    Abstract Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases.[ncbi.nlm.nih.gov] metabolic acidosis 高クロール性代謝性アシドーシス hypogastric 下腹部の hypogastric nerve 下腹神経 i ileal conduit 回腸導管 ileum 回腸 immunosuppressive drug免疫抑制薬 impotenceインポテンツ infertility不妊症、不妊[性][tokyo-med.ac.jp] University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA. matthias.wolf@utsouthwestern.edu Abstract Nephronophthisis (NPHP) is an autosomal recessive[ncbi.nlm.nih.gov]

  • Nephronophthisis 2

    Abstract Nephronophthisis is a recessive cystic renal disease that leads to end-stage renal failure in the first two decades of life.[ncbi.nlm.nih.gov] metabolic acidosis 高クロール性代謝性アシドーシス hypogastric 下腹部の hypogastric nerve 下腹神経 i ileal conduit 回腸導管 ileum 回腸 immunosuppressive drug免疫抑制薬 impotenceインポテンツ infertility不妊症、不妊[性][tokyo-med.ac.jp] The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy.[en.wikipedia.org]

  • Cystic Kidney

    It is inherited as an autosomal recessive trait. It was first described by Guido Fanconi and his colleagues in 1951.[medicinenet.com] Thus this patient had normotensive hypokalemia with a normal anion gap (hyperchloremic) metabolic acidosis, and persistently alkaline urine (his urine pH was 5.5 despite metabolic[bmcnephrol.biomedcentral.com] Autosomal recessive PKD is sometimes detected prenatally (before birth) using a fetal ultrasound. Symptoms of autosomal recessive PKD can begin before birth.[stanfordchildrens.org]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    The disorder in these sibs is presumably inherited as an autosomal recessive trait. The metabolic basis for the calcium deposition has yet to be discovered.[doi.org] Within 72 hours, the neonate developed fever, dehydration, and hyperchloremic metabolic acidosis with slightly elevated blood urea nitrogen and creatinine levels.[ams.ac.ir] [More] ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease.[gulfdoctor.net]

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