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congenital Hypoaldosteronism

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https://www.readbyqxmd.com/read/24840884/disorders-of-aldosterone-synthesis-secretion-and-cellular-function
#1
REVIEW
Allen W Root
PURPOSE OF REVIEW: The purpose of this review is to describe the renin-angiotensin-aldosterone system and its regulatory control of sodium, potassium, chloride, hydrogen ion, and water homeostasis through its effects on the expression and activity of distal renal tubular cotransporter proteins and to discuss the gene mutations encoding these structures that disturb the function of this system. RECENT FINDINGS: Primary hypoaldosteronism may be the result of acquired or congenital errors in renal juxtaglomerular function (the source of renin), angiotensin generation or activity, or aldosterone synthesis...
August 2014: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/24694176/the-clinical-significance-of-aldosterone-synthase-deficiency-report-of-a-novel-mutation-in-the-cyp11b2-gene
#2
Elaine Hui, Matthew Cw Yeung, Pik To Cheung, Elaine Kwan, Louis Low, Kathryn Cb Tan, Karen Sl Lam, Angel Ok Chan
BACKGROUND: Aldosterone synthase (CYP11B2) deficiency is a rare autosomal recessive disorder, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. Neonatal screening for congenital adrenal hyperplasia, another cause of salt wasting, using 17-hydroxyprogesterone measurement would fail to detect aldosterone synthase deficiency, a diagnosis which may be missed until the patient presents with salt-wasting crisis. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation for suspected patients would facilitate clinical management of the patient and assessment of the genetic implication in their offspring...
2014: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/23953807/genetic-disorders-of-potassium-homeostasis
#3
REVIEW
Gaurav Jain, Song Ong, David G Warnock
Hereditary disorders of potassium homeostasis are an interesting group of disorders, affecting people from the newborn period to adults of all ages. The clinical presentation varies from severe hypotension at birth to uncontrolled hypertension in adults, often associated with abnormal potassium values, although many patients may have a normal serum potassium concentration despite being affected by the genetic disorder. A basic understanding of these disorders and their underlying mechanisms has significant clinical implications, especially in the few patients with subtle clinical signs and symptoms...
May 2013: Seminars in Nephrology
https://www.readbyqxmd.com/read/22975403/-hypotension-from-endocrine-origin
#4
REVIEW
Marie-Christine Vantyghem, Claire Douillard, Anne-Sophie Balavoine
Hypotension is defined by a low blood pressure either permanently or only in upright posture (orthostatic hypotension). In contrast to hypertension, there is no threshold defining hypotension. The occurrence of symptoms for systolic and diastolic measurements respectively below 90 and 60 mm Hg establishes the diagnosis. Every acute hypotensive event should suggest shock, adrenal failure or an iatrogenic cause. Chronic hypotension from endocrine origin may be linked to adrenal failure from adrenal or central origin, isolated hypoaldosteronism, pseudohypoaldosteronism, pheochromocytoma, neuro-endocrine tumors (carcinoïd syndrome) or diabetic dysautonomia...
November 2012: La Presse Médicale
https://www.readbyqxmd.com/read/22931312/homozygosity-for-a-mutation-in-the-cyp11b2-gene-in-an-infant-with-congenital-corticosterone-methyl-oxidase-deficiency-type-ii
#5
Casper L Jessen, Jane H Christensen, Niels H Birkebaek, Soren Rittig
UNLABELLED: Isolated aldosterone synthase deficiency can be the source of life-threatening salt wasting and failure to thrive in infancy. We studied an infant with failure to thrive and persistent hyponatremia despite oral sodium supplementation. Initial analyses revealed highly elevated plasma renin but normal values of plasma aldosterone. The biochemical diagnosis of corticosterone methyl oxidase deficiency type II was established by multisteroid analysis, revealing a pathognomonic pattern with a highly elevated ratio of 18-OH-corticosterone to aldosterone...
November 2012: Acta Paediatrica
https://www.readbyqxmd.com/read/22217826/molecular-biology-of-11%C3%AE-hydroxylase-and-11%C3%AE-hydroxysteroid-dehydrogenase-enzymes
#6
REVIEW
P C White, L Pascoe, K M Curnow, G Tannin, A Rösler
There are two steroid 11β-hydroxylase isozymes encoded by the CYP11B1 and CYP11B2 genes on human chromosome 8q. The first is expressed at high levels in the normal adrenal gland, has 11β-hydroxylase activity and is regulated by ACTH. Mutations in the corresponding gene cause congenital adrenal hyperplasia due to 11β-hydroxylase deficiency; thus, this isozyme is required for cortisol biosynthesis. The second isozyme is expressed at low levels in the normal adrenal gland but at higher levels in aldosterone-secreting tumors, and has 11β-hydroxylase, 18-hydroxylase and 18-oxidase activities...
December 1992: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/20733503/genetic-screening-in-the-persian-jewish-community-a-pilot-study
#7
Michael Kaback, Jean Lopatequi, Amin Riley Portuges, Cathy Quindipan, Mitchel Pariani, Nilou Salimpour-Davidov, David L Rimoin
PURPOSE: Israeli investigators have identified several relatively frequent disorders due to founder point mutations in Persian (Iranian) Jews, who, for nearly three centuries up to the Islamic Revolution of 1979, were completely isolated reproductively. METHODS: Using a community-based model previously employed with Tay-Sachs disease prevention, we developed a pilot program for the Persian Jewish community of greater Los Angeles. We screened for mutations responsible for four relatively frequent autosomal recessive conditions in Persian Jews in which effective interventions are available for each: Pseudocholinesterase deficiency (butyryl cholinesterase deficiency); Congenital hypoaldosteronism (corticosterone methyl oxidase II); Autoimmune polyendocrinopathy (autoimmune regulatory element); and Hereditary Inclusion Body myopathy...
October 2010: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/20639134/-primary-hypoaldosteronism-and-moderate-bilateral-deafness-in-a-child-with-a-homozygous-missense-mutation-thr318met-in-the-cyp11b2-gene
#8
O Rubio-Cabezas, L Regueras, M T Muñoz-Calvo, M Bartolomé, J Pozo, J Argente
Isolated congenital hypoaldosteronism is a rare disorder that presents as chronic salt-wasting syndrome during infancy. Aldosterone synthase deficiency due to mutations in CYP11B2 is the underlying cause in most cases. Apart from the classical electrolyte disturbances (hyponatremia and hyperkalemia), no other extra-adrenal features have been described to date. We report a male child with congenital hypoaldosteronism due to a homozygous missense mutation (Thr318Met) in CYP11B2 who also presented with unexplained sensorineural hearing loss...
July 2010: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/19239795/congenital-hypoaldosteronism-associated-with-nails-hypothrophy-case-report-and-review-of-the-literature
#9
REVIEW
Beata Wikiera, Ewa Głab, Ewa Barg, Anna Noczyńska
We report 15 years follow-up of a girl born with nails hypothrophy and primary hypoaldosteronism. The failure to thrive, troubles with feeding and vomiting were observed since the first weeks of life. The results of the laboratory examination confirmed isolated hypoaldosteronism. The growth velocity was diminished and short stature was present during first 4 years of life. Thyroid and pituitary disturbances were excluded. At the age of 4 the treatment with fludrocortisone was gradually discontinued without clinical manifestation of aldosteron deficiency...
2008: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/18723916/congenital-hypoaldosteronism
#10
Vanathi Sethupathi, M Vijayakumar, Lalitha Janakiraman, B R Nammalwar
Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes...
August 2008: Indian Pediatrics
https://www.readbyqxmd.com/read/16986724/-steroid-11beta-hydroxylase-deficiency-focusing-on-the-cyp11b2-cyp11b1-chimera-which-has-been-recently-discovered-as-the-causing-gene
#11
REVIEW
Isao Kuribayashi
No abstract text is available yet for this article.
August 2006: Seikagaku. the Journal of Japanese Biochemical Society
https://www.readbyqxmd.com/read/16733367/congenital-hyperreninemic-hypoaldosteronism-are-there-different-forms
#12
COMMENT
Michael Peter
No abstract text is available yet for this article.
2006: Hormone Research
https://www.readbyqxmd.com/read/16733366/congenital-hyperreninemic-hypoaldosteronism-in-israel-sequence-analysis-of-cyp11b2-gene
#13
Esther Leshinsky-Silver, Zohar Landau, Sema Unlubay, Tzvy Bistrizer, Amnon Zung, Yardena Tenenbaum-Rakover, Liat Devries, Dorit Lev, Aaron Hanukoglu
BACKGROUND/AIMS: Isolated aldosterone biosynthesis defect causing congenital hyperreninemic hypoaldosteronism with otherwise normal adrenal function usually results from aldosterone synthase deficiency. Patients present with manifestations of mineralocorticoid deficiency during the first weeks of life. The largest numbers of cases have been described in Iranian Jews, who carried concomitantly two homozygous missense mutations (R181W and V386A). In a few cases with presumed aldosterone synthase deficiency no mutations in CYP11B2 gene have been identified...
2006: Hormone Research
https://www.readbyqxmd.com/read/16211944/-salt-losing-syndrome-in-the-new-born-new-diagnostic-approach-report-of-our-experience-between-1960-and-1976
#14
J M Limal, R Rappaport, G Lenoir
No abstract text is available yet for this article.
January 1977: Annales de Pédiatrie
https://www.readbyqxmd.com/read/16211903/-association-of-congenital-hypoaldosteronism-and-steatorrhoea
#15
G Loeuille, M Razemon-Pinta, J Lefebvre, A Racadot, J P Farriaux, G Fontaine
No abstract text is available yet for this article.
October 1977: Annales de Pédiatrie
https://www.readbyqxmd.com/read/15179565/rare-causes-of-acute-hyperkalemia-in-the-1st-week-of-life-three-case-reports
#16
Vasilios I Giapros, Agathoklis A Tsatsoulis, Ekaterini A Drougia, Konstantinos D Kollios, Ekaterini C Siomou, Styliani K Andronikou
We describe three neonates with hyperkalemia and renal salt wasting during the 1st week of life. Endocrinological evaluation led to the diagnosis of selective hypoaldosteronism (HA) in two neonates and secondary pseudohypoaldosteronism (PHA) in one. The infant with PHA developed a urinary tract infection, and radiological investigation demonstrated a small dysplastic left kidney with vesicoureteral reflux. The electrolyte and hormonal disturbances in this infant persisted throughout the first months of life...
September 2004: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/15134805/aldosterone-synthase-deficiency-and-related-disorders
#17
REVIEW
Perrin C White
Aldosterone's main actions are to regulate intravascular volume and serum electrolytes by controlling sodium absorbtion and potassium excretion in the distal nephron. Inherited defects in aldosterone biosynthesis thus cause hypovolemia, hyponatremia and hyperkalemia. Defective aldosterone biosynthesis may be caused by congenital adrenal hyperplasia due to 21-hydroxylase (CYP21) deficiency, in which case cortisol biosynthesis is also affected, or as an isolated defect termed aldosterone synthase (corticosterone methyloxidase, CYP11B2) deficiency...
March 31, 2004: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/15026708/-pseudo-hypoaldosteronisms
#18
REVIEW
Marie-Christine Vantyghem, Pierrette Perimenis, Jean-Louis Wemeau
TWO FORMS: Pseudohypoaldosteronisms (PHA) are characterized by end-organ resistance to aldosterone inducing hyperkalemia and hyperaldosteronism. There are two forms of PHA classified according to the level of blood pressure with either hypotension (Type 1 PHA or PHA 1) or hypertension (Type 2 PHA or PHA 2). PHA 1: The association with hypotension and high renin level (PHA 1) is responsible for type 4 tubular acidosis and should suggest congenital or acquired excessive salt loss. Acquired forms are associated with salt wasting of urinary (nephropathy) or digestive (colon resection + ileostomy) origin...
January 31, 2004: La Presse Médicale
https://www.readbyqxmd.com/read/14614232/a-missense-mutation-ggc-435gly-agc-ser-in-exon-8-of-the-cyp11b2-gene-inherited-in-japanese-patients-with-congenital-hypoaldosteronism
#19
Isao Kuribayashi, Hideaki Kuge, Romero Jovel Santa, Aldahoodi Ziyad Mutlaq, Naohito Yamasaki, Takashi Furuno, Akio Takahashi, Shoichi Chida, Toshiro Nakamura, Fumio Endo, Yoshinori Doi, Saburo Onishi, Yutaka Shizuta
OBJECTIVES: To clarify the underlying molecular mechanism of corticosterone methyl oxidase type II (CMO II) deficiency, Japanese patients newly diagnosed with CMO II deficiency were investigated. METHODS: We analyzed the patients' genomic DNA sequence on all 9 exons of the CYP11B2 gene. In addition, restriction fragment length polymorphism (RFLP) analysis and expression studies were performed. RESULTS: The analysis showed that the patients homozygously retained a missense mutation, Gumacr;GC[435Gly]-->Aumacr;GC[Ser], in the CYP11B2 gene...
2003: Hormone Research
https://www.readbyqxmd.com/read/12174243/salt-losing-nephropathy-simulating-congenital-adrenal-hyperplasia-in-an-infant
#20
Jameela A Kari, Hussain A Bamashmous, Abdulmoein E Al-Agha, Hisham A Mosli
Pseudo-hypoaldosteronism occurring predominately in male infants has been reported in association with a spectrum of urologic diseases including obstructive uropathy. This is thought to reflect tubule unresponsiveness to aldosterone. We report a case, which was misdiagnosed as a case of congenital adrenal hyperplasia and treated inappropriately with hydrocortisone and fludrocortisone for 12-months before he had a urinary tract infection and was discovered to have obstructive uropathy on ultrasound. He presented with vomiting, dehydration, hyperkalemia, hyponatremia and metabolic acidosis...
July 2002: Saudi Medical Journal
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