[Weigth Loss in a Neonate- A Case of Hypoaldosteronism].

The Neonatal weight loss is a common problem which most physicians who take care of newborns should recognise. The most common reason is insufficient dietary intake. However the reason can also be an underlying disease. Aldosterone insufficiency in neonates is a rare disease and if not treated correctly can be life threatening. It presents with serious electrolytes abnormalities and metabolic acidosis. It is therefore important to distinguish between serious and benign causes of weight loss in neonates.

Hiperpotasemia e hipoaldosteronismo funcional tras adrenalectomía unilateral por hiperaldosteronismo primario en paciente monorreno con insuficiencia renal crónica / Hyperpothemasia and functional hypoaldosteronism after unilateral adrenalectomy for primary hyperaldosteronism in monorrene patient with chronic renal insufficiency

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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report.

BACKGROUND: X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appears in the first 2 months of life, but can sometimes emerge during childhood. Hypogonadotropic Hypogonadism is often associated later in life and patients may develop azoospermia. We describe an unusual onset of AHC started with isolated hypoaldosteronism as first and only sign of the disease. CASE PRESENTATION: A 18-days-old newborn presented with failure to thrive and feeding difficulties. Blood tests showed severe hyponatremia, hyperkalemia and hypochloremia. Renin was found over the measurable range and aldosterone was low whereas cortisol level was normal with a slightly increased ACTH. In the suspicion of Primary Hypoaldosteronism, correction of plasmatic electrolytes and replacement therapy with Fludrocortisone were promptly started. The subsequent evidence of low plasmatic and urinary cortisol and increased ACTH required the start of Hydrocortisone replacement therapy and it defined a clinical picture of adrenal insufficiency. Genetic analysis demonstrated a novel mutation in the DAX-1 gene leading to the diagnosis of AHC. CONCLUSIONS: AHC onset may involve the aldosterone production itself, miming an isolated defect of aldosterone synthesis. NR0B1/DAX-1 mutations should be considered in male infants presenting with isolated hypoaldosteronism as first sign of adrenal insufficiency.

Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant, clinically heterogeneous disorder characterized by branchial arch anomalies, hearing impairment, and renal malformations. We report the case of a 10-year-old boy with BOR syndrome who presented with hyperkalemic hyperchloremic metabolic acidosis due to hyporeninemic hypoaldosteronism. The child also had mental retardation and spastic diplegia which have hitherto not been described in BOR syndrome.

Considering Postoperative Functional Hypoaldosteronism after Unilateral Adrenalectomy.

Conn's Syndrome is an uncommon condition. Patients who have undergone adrenalectomy in the early postoperative period can demonstrate biochemical hypoaldosteronism. Given the rare nature of this phenomenon we investigated its incidence and whether it translated to clinical findings. A single-institution retrospective review of all patients with biochemically proven hyperaldosteronism from 2005 to 2014 that underwent unilateral adrenalectomy. A total of 29 patients fit the inclusion criteria. Functional hypoaldosteronism had appreciated in 18/29 (62%) patients, whereas 11 patients (38%) had normal postoperative aldosterone. No significant differences between diagnostic groups were found in terms of clinical outcomes (length of stay, postoperative symptomatology, and readmissions P = 0.669, 0.154, and 0.268, respectively). Two (7%) patients required medical therapy. Biochemical evidence of functional hypoaldosteronism was identified in two-thirds of patients undergoing unilateral adrenalectomy. Although contralateral aldosterone suppression can be anticipated, the phenotypic response varied and the outcomes were similar to patients with normal aldosterone levels. Current guidelines make no formal recommendations for assessment of hypoaldosteronism after adrenalectomy, resulting in varying practice paradigms. Surgeons should consider the risk of postoperative hypoaldosteronism in these patients and counsel patients accordingly. Prospective investigations should be performed to assist in development of an outcomes-based care delivery model for these patients.

Relative hypoaldosteronism in a patient with Wolcott-Rallison syndrome.

BACKGROUND: Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. CASE REPORT: A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. 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. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 µg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels. CONCLUSIONS: This is the first case report of Wolcott-Rallison syndrome complicated with relative hypoaldosteronism. Further research is needed to probe the causal inference of relative hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome.

Renal tubular acidosis type IV as a complication of lupus nephritis.

Renal tubular acidosis (RTA) is a rare complication of renal involvement of systemic lupus erythematosus (SLE). We describe a 24-year-old male with type IV lupus nephropathy as a presenting manifestation of SLE. He presented with improvement of renal function following induction therapy with three pulses of methylprednisolone and 500 mg biweekly pulses of cyclophosphamide. However, a week after the first pulse of cyclophosphamide, the patient presented with a significant increase in legs edema and severe hyperkalemia. Type IV RTA associated with hyporeninemic hypoaldosteronism was suspected in the presence of metabolic acidosis with a normal anion gap, severe hyperkalemia without worsening renal function, and urinary pH of 5. RTA was confirmed with a transtubular potassium concentration gradient of 2 and low levels of plasma aldosterone, renin, angiotensin II, and cortisol. Intravenous bicarbonate, high-dose furosemide, and fludrocortisone were administered with normalization of potassium levels and renal function.

SELECTIVE HYPOALDOSTERONISM: A REVIEW.

OBJECTIVE: Selective hypoaldosteronism (SH) is a condition manifested by hyperkalemia due to low aldosterone secretion with normal cortisol. One of the obstacles in diagnosis is the awareness of the condition itself. The objective of this review is to highlight what is known about the epidemiology, pathophysiology, etiology, presentation, diagnosis, and treatment of SH. METHODS: Literature search was performed on PubMed and Ovid Medline for articles which contained hypoaldosteronism as a major topic. RESULTS: The recent literature on this topic is surprisingly limited. Few recent review articles were found, none of which were in English and less than 5 years old. Case reports and genetic literature were also included in this review, as they contain the most recent reports of SH in the literature. CONCLUSION: Awareness about SH will hopefully help physicians to identify patients at risk as well as decide on treatment if any therapy is required.

Unmasked renal impairment and prolonged hyperkalemia after unilateral adrenalectomy for primary aldosteronism coexisting with primary hyperparathyroidism: report of a case.

We herein report the case of a patient with critical hyperkalemia after unilateral adrenalectomy (ADX) for aldosterone-producing adenomas, which were coexisting with primary hyperparathyroidism. A right adrenal tumor oversecreting mineral corticoid was identified in a 62-year-old female whose kidney function had been impaired due to primary hyperaldosteronism and hyperparathyroidism. The ADX improved her hypertension with normalization of the plasma aldosterone concentration, but without adequately increasing her plasma renin activity. Her eGFR further decreased postoperatively, hyperkalemia appeared and the serum potassium level rose to 6.3 mEq/L at 3 months after ADX. Then, treatment with calcium polystyrene sulfonate jelly was started. Eight months after ADX, a left lower parathyroidectomy was performed, and the serum calcium and intact parathyroid hormone levels decreased to the normal range. The hyperkalemia was difficult to control within 20 months postoperatively without treatment with calcium polystyrene sulfonate jelly or hydrocortisone. This suggests that unmasking the renal impairment and relative hypoaldosteronism after ADX might induce critical hyperkalemia.

[Hypoaldosteronism]. / Hipoaldosteronizm.

Hypoaldosteronism is a clinical condition characterized by a deficiency of aldosterone or its impaired action at the tissue level. The disorder may result from disturbances in renal renin production and secretion, conversion of angiotensin I to angiotensin II, adrenal aldosterone synthesis and secretion, or from abnormal responsiveness of the target tissues to aldosterone. Hypoaldosteronism has a wide spectrum of clinical manifestations, ranging from asymptomatic hyperkalemia to life-threatening depletion of fluid volumes. Although the disease, if unrecognized and untreated, seems to be associated with increased morbidity and mortality compared to the normal population, it was surprisingly rarely reviewed in the literature. The aim of this paper is to summarize the present state of knowledge on the etiology, clinical presentation, diagnosis and treatment of various forms of hypoaldosteronism.

Amniodrenaje repetido para el tratamiento de un polihidramnios grave / Repeated amniodrainage for the treatment of severe polyhydramnios

El polihidramnios, con una incidencia de 1/200 gestaciones, se define como el aumento de la cantidad de líquido amniótico y se asocia a un aumento de la patología perinatal. Se debe a una alteración del equilibrio que existe entre la producción y la eliminación del fluido. Se diagnostica mediante estudio ecográfico y se determina por métodos semicuantitativos. Durante el embarazo se puede realizar un estudio etiológico. El tratamiento va encaminado a disminuir el riesgo de complicaciones debidas a la hiperdistensión uterina, sobre todo el parto prematuro, y a adecuar la atención a los recién nacidos. Presentamos un caso de polihidramnios grave tratado mediante amniodrenaje repetido, producido por un seudohipoaldosteronismo, causa infrecuente de hidramnios y difícil de diagnosticar mediante el estudio prenatal habitual (AU)

The polyhydramnios, with an incidence of 1/200 pregnancies, defined as the increase in the amount of amniotic fluid, is associated with an increase in perinatal pathology. It is due to disruption of the equilibrium that exists between the production and removal of the fluid. It is diagnosed by ultrasound and is determined by semi-quantitative methods. During pregnancy can be An aetiological study may be made during pregnancy. The treatment is aimed at reducing the risk of complications due to uterine overdistensión, mainly pre-term birth, and appropriate care of the newborn. We report a case of severe polyhydramnios treated by repeated amniodrainage, produced by a pseudo-hypoaldosteronism, a rare cause, and difficult to diagnose by routine prenatal study (AU)

Hyperpotassemia and bradycardia in a bedridden elderly woman with selective hypoaldosteronism associated with low renin activity.

A bedridden 85-year-old woman had hyperpotassemia (7.7 mEq/L) and bradycardia (30/min). Endocrinologic findings revealed a decrease in the renin-aldosterone system and normal adrenoglucocorticoid function. The results were consistent with the abnormalities seen in selective hypoaldosteronism with low renin activity. In addition, 9 of 11 patients, selected randomly from 72 bedridden elderly patients with normal serum sodium and potassium levels in our hospital, had diminished plasma renin activity (PRA) and plasma aldosterone concentration (PAC). The present patient was prescribed nonsteroidal anti-inflammatory drug (NSAID). NSAID reduces renal potassium excretion through the inhibition of renal prostaglandin synthesis. Therefore, the use of NSAID in bedridden elderly patients might intensify the underlying asymptomatic hypoaldosteronism and cause life-threatening hyperpotassemia.

[Hyper- and hypoaldosteronism].

The literature review devoted to pathogenesis of the development of hyper- and hypoaldosteronism is presented. Based on the analysis of Russian and English-written literature known and clinically significant diseases arising due to hyper- and hypoaldosteronism are presented. Pathogenetic mechanisms inducing the development of primary and secondary forms of hyper- and hypoaldosteronism were enlightened. Furthermore the data on mechanisms of formation of hyper- and hypoaldosteronism are given.

Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function.

The patients affected by vitamin B12-unresponsive methylmalonic acidemia (MMA) on the long run develop chronic renal disease with interstitial nephropathy and progressive renal insufficiency. The mechanism of nephrotoxicity in vitamin B12-unresponsive MMA is not yet known. Chronic hyporeninemic hypoaldosteronism has been found in many cases of methylmalonic acidemia, hyperkalemia and renal tubular acidosis type 4. We report 2 patients affected by B12-unresponsive methylmalonic acidemia diagnosed at the age of 23 months and 5 years, respectively, with normal glomerular filtration and function. They showed hyporeninemic hypoaldosteronism and significant hyperkalemia requiring sodium potassium exchange resin (Kayexalate) therapy after an episode of metabolic decompensation leading to diagnosis of MMA. In both children, hyporeninemic hypoaldosteronism and hyperkalemia disappeared after 6 months of good metabolic control.