Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. [books.google.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

People with Gitelman's syndrome present with hypochloraemic metabolic alkalosis, hypokalaemia and hypocalciuria. Hypomagnesaemia is present in many but not all cases. [patient.info]

A de novo heterozygous CASR mutation that is responsible for NHPT may also present in individuals with asymptomatic hypocalciuric hypercalcemia. [edmcasereports.com]

• Anemia

  New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference [books.google.com]

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Menkes Disease July 9, 2018 by Peter [checkrare.com]

  On the other hand, some patients will develop additional features, such as alopecia, keratoconjunctivitis, malabsorption and steatorrhea, gonadal failure, pernicious anemia, chronic active hepatitis, thyroid disease, and insulin-requiring diabetes mellitus [hypopara.org]

• Hydrops Fetalis

  Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care [books.google.com]

• Convulsions

  Most affected individuals are asymptomatic but patients may suffer from generalized convulsions. In adulthood, chondrocalcinosis may be observed. [orpha.net]

  These disorders share the general symptoms of hypomagnesemia, tetany and epileptiformic convulsions, and often include secondary or associated disturbances in calcium excretion. [ncbi.nlm.nih.gov]

  Patients may suffer from generalized convulsions, but they may also be asymptomatic, except for the development of chondrocalcinosis at an adult age. [link.springer.com]

   Neuromuscular irritability, including tremor, fasciculations, tetany, Chvostek and Trousseau signs, and convulsions, may be present.  Other manifestations include Apathy, Muscle cramps, Hyperreflexia, Acute organic brain syndromes, Depression, Generalized [slideshare.net]

• Agitation

  Gain new insight into today’s hottest topics, including sleep-disordered breathing, cuffed endotracheal tubes, premedication, emergence agitation, postoperative vomiting, and new airway devices. [books.google.com]

[…] severe primary hyperparathyroidism Establishing a diagnosis of autosomal dominant hypoparathyroidism As part of the workup of idiopathic hypoparathyroidism As part of the workup of patients with Bartter syndrome Clinical Information Discusses physiology [mayomedicallaboratories.com]

(See Etiology, Presentation, and Workup .) Almost all enzymatic processes using phosphorus as an energy source require magnesium for activation. [emedicine.medscape.com]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment: Needs to be individualised to the patient's biochemical status, depending on whether proximal or distal renal tubular acidosis predominates. [patient.info]

Chan Hydrochlorothiazide-amiloride in the treatment of congenital nephrogenic diabetes insipidus [40.] N. Knoers, L.A. [apcontinuada.com]

[…] gradient that favors secretion of K into the lumen this results in decreased K mimics hyperaldosteronism (recall that aldosterone increases the number of open luminal Na channels) Genetics inheritance pattern autosomal dominant mutations chromosome 16p12 Prognosis [medbullets.com]

With early treatment of the electrolyte imbalances, the prognosis for patients with classic Bartter Syndrome is good. History [ edit ] The condition is named after Dr. Frederic Bartter, who, along with Dr. [en.wikipedia.org]

Treatment: High doses of bicarbonate are required but the prognosis is good. Correcting acidosis and low potassium levels allows normal growth and prevents bone disease; however, vitamin D supplements may also be required. [patient.info]

Biological context of CLDN16 Thus, mutations at different intragenic sites in the claudin 16 gene may lead to particular clinical phenotypes with a distinct prognosis [9]. [wikigenes.org]

Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D: Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011;80:768-776. [karger.com]

Etiology ADPHH is caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na /K -ATPase, localized on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule [orpha.net]

Elucidation of the genetic etiology and, for most of these disorders, also the underlying pathophysiology of the disease, has greatly increased our understanding of the normal physiology of renal magnesium handling. [wwww.unboundmedicine.com]

PATIENT: A 2-8/12 year-old female with severe hypocalcemia and hypomagnesemia of unknown etiology. METHODS: Genetic analysis was performed on the proband and both parents. [ncbi.nlm.nih.gov]

Review Summary Nature Reviews Nephrology 2008年2月1日 Hereditary etiologies of hypomagnesemia PubMedおよびOvidデータベースを用いて文献検索を実施した。 [natureasia.com]

[…] hyperaldosteronism Congenital adrenal hyperplasia Renal Tubular Defects Category Fanconi Syndrome Bartter Syndrome Gitelman Syndrome Liddle Syndrome Defect localization Proximal tubule Thick ascending loop of Henle Distal convoluted tubule Collecting tubule Etiology [medbullets.com]

Summary Epidemiology To date, only one large pedigree with 18 affected individuals has been reported in the literature. Clinical description ADPHH can be detected in childhood or in adult life. [orpha.net]

Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab. 2016 Jun;101:2284-99. Ferre EM, Rose SR, Rosenzweig SD, et al. [rarediseases.org]

Introduction Clinical definition a renal tubular disorder affecting the collecting tubules characterized by hypertension hypokalemia metabolic alkalosis also known as pseudohyperaldosteronism Epidemiology incidence rare demographics young children suspected [medbullets.com]

Relevant External Links for CLDN16 Genetic Association Database (GAD) CLDN16 Human Genome Epidemiology (HuGE) Navigator CLDN16 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CLDN16 No data available for Genatlas for CLDN16 Gene Paracellin [genecards.org]

Epidemiology To date, only one large pedigree with 18 affected individuals has been reported in the literature. Clinical description ADPHH can be detected in childhood or in adult life. [rarediseases.info.nih.gov]

From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career. [books.google.com]

This is yet another example of the importance of studying rare disorders in order to unravel physiological and pathophysiological processes in the human body. [wwww.unboundmedicine.com]

Zelikovic Molecular pathophysiology of tubular transport disorders Pediatr Nephrol., 16 (2001), pp. 919-935 [Hamilton y Butt, 2000] K.L. Hamilton, A.G. [apcontinuada.com]

This review correlates the clinical pathophysiology with the primary defect and secondary changes in cellular electrolyte transport. [ncbi.nlm.nih.gov]

Kumar A, Ralston SH (1996) Bisphosphonates prevent the hungry bone syndrome. Nephron 74: 729. [omicsonline.org]

Chronic: oral bicarbonate; long-term potassium supplements are usually not required, as alkali therapy prevents excessive urinary potassium loss. [patient.info]

GC03P191367 GC03P191507 GC03P191426 GC03P191588 GC03P190040 GC03P187505 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent [genecards.org]

Maggiore Comparison of two diets for the prevention of recurrent stones in idiopathic hypercalciuria [21.] M.G. Penido, E.M. Lima, M.F. Souto, V.S. Marino, A.L. Tupinamba, A. [apcontinuada.com]

 The addition of 4-12 mmol of magnesium per day to total parenteral nutrition has been recommended to prevent hypomagnesemia. 17.  Hungry bone syndrome, in which magnesium is removed from the extracellular fluid space and deposited in bone following [slideshare.net]