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Hypoaldosteronism

Hypoaldosteronism is a rare condition caused by the deficiency of the hormone aldosterone. It can either be congenital or acquired which, in turn, can be primary or secondary and can be associated with elevated or diminished levels of renin. The disorder is characterized by hyperkalemia and metabolic acidosis. Diagnosis is based on laboratory tests.


Presentation

Hypoaldosteronism is a rare disorder which is usually asymptomatic. It can either be congenital/primary [1] or can be secondary to renal dysfunction, multiple myeloma, diabetes, drugs like angiotensin-converting enzyme (ACE) inhibitors, debilitating diseases, lead toxicity and enzyme defects in aldosterone synthesis [2].

Patients with mild hyperkalemia are often asymptomatic but those with severe hyperkalemia may present with fatigue, asthenia, nausea, vomiting, dyspnea (Kussmaul respiration), palpitations, angina, myopathies, flaccid paralysis, paralytic ileus, and cardiac arrhythmias [3]. Clinical features of underlying conditions like edema or pathological fractures or autoimmune disorders can also be noticed.

Congenital hypoaldosteronism is due to the deficiency of the enzyme aldosterone synthase and it is inherited in an autosomal recessive pattern. Two types of biochemically different aldosterone deficiencies have been reported: corticosterone methyl oxidase (CMO) deficiency type I and type II [4]. Clinically both the disorders present with failure to thrive, growth restriction and depletion of sodium with elevated levels of serum potassium [5].

Short Stature
  • The growth velocity was diminished and short stature was present during first 4 years of life. Thyroid and pituitary disturbances were excluded.[ncbi.nlm.nih.gov]
  • Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid.[ncbi.nlm.nih.gov]
  • A 14-year-old girl presented with short stature and delayed puberty.[journals.lww.com]
  • After resolution of her decompansated status, evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in EIF2AK3 gene confirmed the clinical diagnosis of WRS. She was euthyroid on L -thyroxine therapy.[abstracts.eurospe.org]
  • Based on the findings of diabetes mellitus , hearing impairment and short stature, the patient was suspected to have MIDD. Molecular genetic analysis was then performed in the patient (proband) and available relatives.[scielo.br]
Moonshine
  • Physicians should inquire about the chronic use of analgesics or ACE inhibitors, occupational or recreational exposure to either lead or moonshine (alcohol) respectively, obstructive uropathy, and an abnormal appetite (pica) for paint/mud.[symptoma.com]
  • In particular, consider long-term analgesic use, exposure to lead (industrial or from moonshine liquor), and obstructive symptoms.[emedicine.medscape.com]
Euthyroid
Kussmaul Respiration
  • Patients with mild hyperkalemia are often asymptomatic but those with severe hyperkalemia may present with fatigue, asthenia, nausea, vomiting, dyspnea (Kussmaul respiration), palpitations, angina, myopathies, flaccid paralysis, paralytic ileus, and cardiac[symptoma.com]
  • Mild acidosis may be present, but associated physical signs (eg, Kussmaul respiration) usually are absent. However, some cases of symptomatic acidosis with dyspnea have been described.[emedicine.medscape.com]
Failure to Thrive
  • 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.[ncbi.nlm.nih.gov]
  • We report herein the case of a premature infant who presented with failure to thrive, hyponatremia, hyperkalemia and metabolic acidosis.[ncbi.nlm.nih.gov]
  • Abstract The first child of consanguineous parents presented with failure to thrive and feeding problems at age 6 weeks. Important laboratory findings were low plasma sodium and elevated potassium and renin.[ncbi.nlm.nih.gov]
  • 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.[ncbi.nlm.nih.gov]
  • All presented in infancy with failure to thrive, hyponatremia, hyperkalemia, markedly elevated plasma renin activity, and low or inappropriately normal aldosterone levels.[ncbi.nlm.nih.gov]
Suggestibility
  • Hyperkalemia did not directly affect renal acid handling, and extrarenal mechanisms for potassium excretion are suggested.[ncbi.nlm.nih.gov]
  • Initial serum hormone profiling suggested isolated hypoaldosteronism (aldosterone: 0.01 pg/ml, normal range: 50-900 pg/ml).[ncbi.nlm.nih.gov]
  • Evolution of hyperkalemia between 1977 and 1986 suggests this defect was acquired.[ncbi.nlm.nih.gov]
  • 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.[ncbi.nlm.nih.gov]
  • Two observations suggested that impaired renal prostaglandin production contributed to the pathogenesis of the patient's disorder.[ncbi.nlm.nih.gov]

Workup

Hypoaldosteronism is often diagnosed during laboratory tests but it should be suspected in patients with end-stage or chronic renal disease. Physicians should inquire about the chronic use of analgesics or ACE inhibitors, occupational or recreational exposure to either lead or moonshine (alcohol) respectively, obstructive uropathy, and an abnormal appetite (pica) for paint/mud. History of diseases like diabetes or autoimmune disorders like systemic lupus erythematosus (SLE) should also be elicited. Physical examination may reveal non-specific findings such as hypertension and rarely Kussmaul type of respiration can be noted.

Laboratory tests are ordered based on history and physical examination focusing on complete blood count, platelet count, serum electrolytes, blood sugar levels, renal function tests, urinalysis and serology tests to determine underlying renal disorders like SLE, multiple myeloma, hepatitis and human immunodeficiency virus (HIV) infection. Fractional excretion of potassium and the gradient of transtubular potassium is calculated from a potassium, creatinine, and urine osmolar spot test. Extremely low levels in the presence of hyperkalemia are suggestive of hypoaldosteronism. Urinary pH analysis helps to differentiate between type I and type IV renal tubular acidosis and a cosyntropin test is indicated in cases suspected to have adrenal insufficiency. If hyporeninemic hypoaldosteronism is suspected then a trial of oral fludrocortisone is given to confirm the diagnosis. The potassium levels normalize within two days of administration of fludrocortisone in patients with hyporeninemic hypoaldosteronism [6].

An electrocardiogram is obtained in all patients with hyperkalemia and may show the classical features of a tall peaked T wave, absent P wave with wide QRS complexes [7] and ventricular arrhythmias.

Patients with suspected obstructive uropathy should undergo ultrasonography and a renal biopsy may be required for definitive diagnosis in patients with an early-stage chronic renal disease.

Hyperreninemia
  • Laboratory data revealed selective aldosterone deficiency with hyperreninemia. Biopsy documented replacement of the adrenal glands with metastatic hepatocellular carcinoma.[ncbi.nlm.nih.gov]
  • Endogenous hyperreninemia and basal elevations of 18-OHB, accompanied by limited aldosterone responsiveness to renin and ACTH, suggest the presence of a partial corticosterone methyl oxidase type II defect.[ncbi.nlm.nih.gov]
  • These results suggest adrenal insensitivity to angiotensin II, possibly a defect in adrenal angiotensin II receptors, as the cause of hypoldosteronism with hyperreninemia in this patient.[ncbi.nlm.nih.gov]
  • Case Report Abstract Author Information We report a child with primary renal tubular alkalosis who had hypokalemia , profound hyperreninemia , and hypoaldosteronism . A 14-year-old girl presented with short stature and delayed puberty.[journals.lww.com]
Peaking T Wave
  • An electrocardiogram is obtained in all patients with hyperkalemia and may show the classical features of a tall peaked T wave, absent P wave with wide QRS complexes and ventricular arrhythmias.[symptoma.com]
  • His electrocardiogram had tall peak T waves and broad complex QRS pattern. Haematological values were normal and blood culture was later reported as negative.[jpma.org.pk]
Absent A-Waves
  • An electrocardiogram is obtained in all patients with hyperkalemia and may show the classical features of a tall peaked T wave, absent P wave with wide QRS complexes and ventricular arrhythmias.[symptoma.com]

Treatment

  • Abstract Two patients with insulin-dependent diabetes mellitus (Type I), developed severe, life-threatening hyperkalaemia, the first following treatment with spironolactone, the second during treatment for staphylococcal septicaemia when glucose-induced[ncbi.nlm.nih.gov]
  • CONCLUSION: Awareness about SH will hopefully help physicians to identify patients at risk as well as decide on treatment if any therapy is required.[ncbi.nlm.nih.gov]
  • At the age of 4 the treatment with fludrocortisone was gradually discontinued without clinical manifestation of aldosteron deficiency. The child was on high sodium chloride diet. The growth velocity improved.[ncbi.nlm.nih.gov]
  • Observations were made over 12 yr on the evolution and treatment of hyperkalemia in a diabetic subject.[ncbi.nlm.nih.gov]
  • Hyporeninemic hypoaldosteronism is amenable to fludrocortisone treatment, but the accompanying hypertension and edema can prove a problem in these patients, so often a diuretic (such as the thiazide diuretic, bendrofluazide, or a loop diuretic, such as[en.wikipedia.org]

Prognosis

  • Hyperreninemic hypoaldosteronism syndrome was related to a greater pro-inflammatory status and degree of acute organ failure, and was independently associated with a worse prognosis.[ncbi.nlm.nih.gov]
  • Hyperaldosteronism Prognosis With early diagnosis and cure, the prognosis for Primary Hyperaldosteronism is found to be quite good. In case of Secondary Hyperaldosteronism, the outcome depends on the underlying cause of the disease.[hxbenefit.com]
  • […] filtration rate may also contribute to the development of hyperkalemia Intrinsic Renal Disease Acute Glomerulonephritis with Volume Expansion (see Acute Glomerulonephritis , [[Acute Glomerulonephritis]]) Treatment: responds to mineralocorticoid replacement Prognosis[mdnxs.com]

Etiology

  • The objective of this review is to highlight what is known about the epidemiology, pathophysiology, etiology, presentation, diagnosis, and treatment of SH.[ncbi.nlm.nih.gov]
  • Etiology It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene. Management and treatment Increased sodium intake and mineralocorticoid supplementation provides effective treatment.[orpha.net]
  • (See "Etiology and treatment of hypoaldosteronism (type 4 RTA)", section on Congenital adrenal hyperplasia and isolated hypoaldosteronism, which reviews the biosynthetic defects in this disorder).[enotes.tripod.com]
  • Etiology Decreased Aldosterone Synthesis Inherited Disorders Congenital Isolated Hypoaldosteronism 21 Hydroxylase Deficiency Other Defects Pseudohypoaldosteronism Type 2 (Gordon’s Syndrome) Physiology : defects in WKNK1 or WNK4 kinases Clinical Familial[mdnxs.com]

Epidemiology

  • The objective of this review is to highlight what is known about the epidemiology, pathophysiology, etiology, presentation, diagnosis, and treatment of SH.[ncbi.nlm.nih.gov]
  • […] typically within 1-2 wks) leads to resolution of hyperkalemia Chronic Kidney Disease (CKD) (see Chronic Kidney Disease , [[Chronic Kidney Disease]]): with chronic interstitial nephritis Diabetic Nephropathy (see Diabetes Mellitus , [[Diabetes Mellitus]]) Epidemiology[mdnxs.com]
  • Epidemiology Acute tubulointerstitial nephritis secondary to NSAID therapy is twice as likely to occur in women as in men.[6] The elderly are most often affected, with the highest prevalence of renal toxicity due to NSAIDs occurring in the seventh decade[the-medical-dictionary.com]
  • Goitre epidemiology: Thyroid volume, iodine excretion, thyroglobulin and thyrotropin in Germany and Sweden. Acta Endocrinol 1 12:494501. ‎[books.google.es]
Sex distribution
Age distribution

Pathophysiology

  • The management of hyperkalaemia and the pathophysiological background of hyporeninaemic hypoaldosteronism are discussed.[ncbi.nlm.nih.gov]
  • The objective of this review is to highlight what is known about the epidemiology, pathophysiology, etiology, presentation, diagnosis, and treatment of SH.[ncbi.nlm.nih.gov]
  • Abstract To further define the pathophysiology of the syndrome of acquired isolated hypoaldosteronism, we determined plasma concentrations of active and inactive renin and urinary kallikrein and prostaglandin E2 excretion rates in 11 patients with the[ncbi.nlm.nih.gov]
  • The genetic basis of glucocorticoid remediable aldosteronism has been elucidated and adequately explains most of the pathophysiologic features of this disorder.[ncbi.nlm.nih.gov]
  • This article reviews some of the pathophysiologic aspects, the clinical picture, and the treatment strategies of hyporeninemic hypoaldosteronism from the standpoint of clinical presentation, evaluation, and treatment.[emedicine.medscape.com]

Prevention

  • These changes can be prevented to a degree by increasing the dietary NaCl intake.[en.wikipedia.org]
  • She was treated with 6 g of salt daily to prevent dehydration, which she stopped herself because of reduced fecal losses.[ncbi.nlm.nih.gov]
  • Both patients eventually received long-term FF treatment to prevent impairment of longitudinal growth caused by chronic salt-loss.[ncbi.nlm.nih.gov]
  • Previous reports showed beneficial effects of CoQ10 on some neuromuscular symptoms, prevention of progressive insulin secretory defect, exercise intolerance, hearing loss, myocardial dysfunction, and intestinal pseudo-obstruction in MIDD patients (13,16[scielo.br]
  • The Heart Outcomes Prevention Evaluation Study Investigators [published corrections appear in N Engl J Med 2000;342:1376; N Engl J Med 2000;342:748]. N Engl J Med . 2000;342:145–53. 15. McFarlane SI, Sowers JR.[aafp.org]

References

Article

  1. Kokko JP. Primary acquired hypoaldosteronism. Kidney International. 1985; 27 (4): 690-702
  2. Ferri FF. Ferri's Clinical Advisor 2010. Philadelphia. Mosby; 2009;
  3. Lehnhardt A, Kemper MJ. Pathogenesis, diagnosis, and management of hyperkalemia. Pediatr Nephrol. 2011 Mar; 26(3):377-84.
  4. Ulick S. Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway. Journal of Clinical Endocrinology and Metabolism 1976; 43: 92 –96.
  5. Peter M, Bunger K, Drop SLS, Sippell WG. Molecular genetic study in two patients with congenital hypoaldosteronism (type I and II) in relation to previously published hormonal studies. European Journal of Endocrinology. 1998;139:96-100
  6. Watanabe T, Nitta K. Transient hyporeninemic hypoaldosteronism in acute glomerulonephritis. Pediatr Nephrol. 2002;17:959–63.
  7. Slovis C, Jenkins R. ABC of clinical electrocardiography: conditions not primarily affecting the heart. BMJ. 2002;324:1320–3.

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Last updated: 2018-06-22 07:28