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Liddle's Syndrome 0021-7557/02/78-03/251 Jornal de Pediatria - Vol. 78, Nº3, 2002 251 Jornal de Pediatria Copyright © 2002 by Sociedade Brasileira de Pediatria CASE REPORT Liddle’s syndrome: late diagnosis of a rare cause of arterial hypertension Ana Cristina Simões e Silva,1 Eduardo A. Oliveira,1 Camila Romano Gomes,2 Flávio Souza Lima,3 José S.S. Diniz4 Abstract Objective: the aim of this article is to highlight the importance of a rare disease that causes severe arterial hypertension in children. It is important to advise pediatricians to measure arterial pressure in children in order to avoid late diagnosis and renal insufficiency. Description: we report a case of a 13-year-old patient that presented typical clinical and laboratorial features of Liddle’s syndrome. The diagnosis was established based on the clinical picture associated with the presence of chronic hypokalemia, increase of urinary potassium excretion with sodium retention and reduction of renin plasma activity, and circulating levels of angiotensin II and aldosterone. In a spite of the initial therapeutic response to triamterene, the patient developed progressive renal failure due to the delay in the diagnosis and the poorly controlled hypertension. Comments: Liddle’s syndrome consists of a form of pseudoaldosteronism characterized by arterial hypertension, hypokalemia, metabolic alkalosis and failure to thrive. Some aspects regarding physiopathology, diagnosis and treatment are discussed. J Pediatr (Rio J) 2002; 78 (3): 251-54: Liddle’s syndrome, arterial hypertension, chronic renal insufficiency. Introduction In 1963, Liddle et al. described a congenital renal stated that the alterations observed could be produced by a disease with clinical and laboratory characteristics similar primary abnormality regarding the renal transport of sodium, to primary hyperaldosteronism, however it presented low with an increase in the permeability to this ion and, aldosterone excretion rate.1 Acute hypertension, expansion consequently, hypervolemia and potassium loss. Today, the of the extracellular volume and hypokalemia are symptoms syndrome is considered an autosomal dominant disease that characterize this condition. At that moment, Liddle with variable clinical expression, whose main alteration occurs in the sodium channels, secondary to mutations in their beta or gamma subunits.2 Physicians should consider this diagnosis in patients 1. Associate Professor, Department of Pediatrics, School of Medicine, presenting persistent hypertension, polyuria, polydipsia, Universidade Federal de Minas Gerais (UFMG). positive family history, hypokalemic alkalosis, 2. Pediatrics Resident, Hospital das Clínicas, Universidade Federal de hyporeninemia, normal cortisol level and insignificant level Minas Gerais. 3 3. Undergraduate student. Probationer, Nephrology Unit. of aldosterone. After confirming the diagnosis, we 4. Emeritus Professor, Department of Pediatrics, School of Medicine, recommend the treatment with triamterene or amiloride, Universidade Federal de Minas Gerais (UFMG). which diminishes tubular cell permeability to sodium by Manuscript received Nov 03 2001. Accepted for publication Mar 27 2002. inhibiting the amiloride-sensitive channels.4,5 251 252 Jornal de Pediatria - Vol. 78, Nº3, 2002 Liddle’s syndrome:... - Simões e Silva AC et alii The diagnosis of Liddle’s syndrome carries important had been seen by several pediatricians and endocrinologists consequences, especially when a late diagnosis is performed (due to his low stature). The patient was admitted to hospital, or when it is not established by the physician. Also, we and was initially given slow-release nifedipine and captopril, would like to point out the importance of genetic counseling, with partial control of blood pressure levels. His hypertensive in addition to research regarding other family members, condition was then investigated, revealing biochemical since it is a congenital disease. Renal, cardiovascular and alterations such as hypokalemia and residual levels of the growth sequelae can be observed, although appropriate upper normal limit, in addition to heart enlargement (chest treatment usually causes significant improvement of clinical x-ray), overload of the left ventricle (ECG) associated with and laboratory conditions. Thus, the purpose of this case hypertrophy and mild aortic insufficiency (echocardiogram). report is to highlight the importance of a disease that, albeit Hypertensive retinopathy was detected on ophthalmologic rare, causes severe hypertension in children. examination, while abdominal ultrasonography revealed kidneys with diffusely increased echogenecity and loss of the cortical and medullary differentiation. The longitudinal, Case Report transversal and anteroposterior dimensions of the kidneys FJTS, 13 years old, male, was admitted to the Service of were as follows: right kidney (73 x 30 x 27 mm) and left Pediatric Nephrology due to retardation of weight/height kidney (77 x 33 x 38 mm). growth rate. The patient’s mother reported that since his After the partial control of blood pressure levels, the birth, in February 1984, the child has presented polyuria, patient was discharged from hospital and continued to be polydipsia, repeated fever episodes and growth retardation, treated with nifedipine and captopril. Deeper investigations with weight and height often below the 3rd percentile. The were performed. The Doppler ultrasound of renal vessels patient was submitted to multivitamin treatments, but with did not show any abnormalities. The determination of no positive effects. With regard to the gestational period urinary electrolytes, plasma renin activity (PRA) and and delivery, the mother presented hemorrhage at the sixth circulating levels of angiotensin [angiotensin I - Ang I, month, and the child was premature. His birthweight was angiotensin II – Ang II and angiotensin-(1-7) – Ang-(1-7)] 1,480 grams and he was 36 cm long; as a result, he stayed and aldosterone respectively showed an increase in the three months in the intensive care unit. There was no urinary excretion of potassium together with the reduction register of blood pressure measurement while the patient of sodium loss, in addition to a decrease in PRA, circulating stayed in the intensive care unit. There was a presumptive levels of Ang II and serum aldosterone (see Table 1). The diagnosis of congenital toxoplasmosis, which was not hypothesis of Liddle’s syndrome was suggested based on confirmed. However, the child was treated for a long period these clinic conditions and laboratory alterations. Thus, the of time. Regarding family history, the patient’s mother therapeutic scheme was replaced with a rigid association of reported that the child had three older brothers. All of them triamterene (150 mg/day), hydrochlorothiazide (150 mg/ were healthy, even though the mother had had three day) and potassium chloride (2.4 g/day), with a positive miscarriages of unknown cause. therapeutic response. Considering the patient’s age, arterial When the patient was admitted to hospital at the age of blood pressure was normal (120 x 85 mmHg, percentile < 13, he was short (123.5 cm – percentile < 3) and did not 90th for gender and height). During follow-up, there was a present any symptoms; however, his blood pressure was reduction in polyuria and polydipsia associated with the 220 x 160 mmHg. His mother reported that his blood stabilization of arterial blood pressure, potassium, and pressure had never been checked before, even though he nitrogen residual levels. Table 1 - Circulating components of the renin-angiotensin-aldosterone system Reference values Specific values PRA (RV: 0.40 ± 0.22 ng Ang I/ml/h) 0.08 ng Ang I/ml/h Ang I (RV: 26.4 ± 13.7 pg/ml) 27.8 pg/ml Ang II (RV: 21.4 ± 8.7 pg/ml) 16.2 pg/ml Ang-(1-7) (RV: 16.1 ± 7.9 pg/ml) 15.5 pg/ml Aldosterone (RV: 5-30 ng/dl) 4 ng/dl Liddle’s syndrome:... - Simões e Silva AC et alii Jornal de Pediatria - Vol. 78, Nº3, 2002 253 The patient interrupted the follow-up visits for about Hypertension is the main clinical alteration observed in two years, and returned presenting uncontrolled blood the patients with Liddle’s syndrome. This symptom can be pressure levels (260 x 140 mmHg) and severe deterioration initially explained by the expansion of the extracellular of renal function, which was detected through the significant fluid caused by renal retention of sodium. This process increase in residual levels (urea = 160 mg/dl, and creatinine causes a reduction in the circulating levels of renin, Ang I, = 5.9 mg/dl). The patient’s mother reported that during the Ang II and consequently, in aldosterone levels as well.3,4 interruption of the clinical follow-up, there was an irregular In this case, there was no decrease in Ang I levels, as shown use of medication and blood pressure levels became out of in Table 1. Moreover, this increase in blood pressure control, so that hospital admissions were necessary. The occurs due to an increase in peripheral vascular resistance patient was admitted to Hospital das Clínicas of Universidade related to the greater sodium influx into the cell, with the Federal de Minas Gerais, where he spent one week and mobilization of intracellular calcium and, consequently, received several hypotensive drugs at high doses: nifedipine vasoconstriction.3,8 This shows that the mechanisms of retard – 120 mg/day, captopril - 150 mg/day, triamterene – sodium transportation through the membrane are not working 300 mg/day, hydrochlorothiazide – 300 mg/day and properly. Such abnormal
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