University Journal of Medicine and Medical Specialities

ISSN 2455- 2852 2019, Vol. 5(6)

A Rare Case of Pseudohypoaldosteronism Type I in a Neonate: Case Report

Harish S, Kamalarathnam CN
Department of Neonatology, Institute of Child Health, Madras Medical College

Abstract:31 week preterm baby presented at 12 days of life

for membrane stabilisation and bicarbonate. The baby was how-
with shock, hypotension, hyponatremia, hyperkalaemia and
ever refractory to the above therapy. Serum 17-OHP was 12.54
metabolic acidosis. Congenital Adrenal Hyperplasia was
ng/ml (2.4-16.68ng/ml) and cortisol level was more than
initially suspected. The baby was unresponsive to steroid
63.44mcg/dLthereby ruling out CAH. Urinary Sodium loss was
replacement and had normal 17 OHP and elevated
high and Trans tubularpotassium gradient was 2 suggesting
aldosterone levels suggesting Pseudohypoaldosteronism.
mineralocorticoid resistance. Serum Aldosterone level
The baby was aggressively managed with fluid, sodium and
sent was more than 4000 pg/ml (20-1100 pg/ml) confirming the
potassium lowering therapy. The clinical condition was
diagnosis of Pseudohypoaldosteronism Type 1. Serum Renin
complicated by bacterial sepsis resulting in the baby’s death.
levels could not be done. Ultrasound KUB was normal.
Keywords: pseudohypoaldosteronism, neonate, CAH,
Hydrocortisone and fludrocortisone was tapered and stopped.
hyponatremia, hyperkalaemia, metabolic acidosis
The baby was managed with fluid volumes of 200ml/kg/day,
sodium intake of 15 meq/kg/day and K+ lowering agents. Despite
Introduction:
the above therapy, the clinical course was further complicated by
Pseudohypoaldosteronism (PHA) is a clinical condition that is
Pseudomonas sepsis and the baby eventually succumbed to
characterised by hyponatremia, hyperkalaemia and metabolic
illness.
acidosis. The clinical presentation can mimic Congenital
Discussion:
Adrenal Hyperplasia (CAH) and is due to resistance to the
Aldosterone is a steroid hormone that is central to
mineralocorticoid hormone, aldosterone. We report a case of
sodium-potassium and fluid homeostasis. Aldosterone binds to
PHA in a preterm neonate with salt losing crisis and life
mineralocorticoid receptor (MR) in renal tubules(1). Through a
threatening hyperkalaemia.
series of transcriptional factors, sodium is absorbed and
potassium is lost through renal tubules. This hormone also has
its effect on Epithelial Sodium Channel (ENaC), a heterotrimeric
Case Report:
protein with alpha, beta and gamma subunits. The ENaC is
A 31 week old preterm baby weighing 1500 g, born through
present in sweat glands, colon and salivary glands(2).
second degree consanguineous marriage, was admitted at
Pseudohypoaldosteronism (PHA) is a clinical condition that is
our NICU for Respiratory Distress Syndrome. Following
characterised by hyponatremia, hyperkalaemia and metabolic
administration of surfactant, baby was extubated to CPAP
acidosis. The pathology lies in resistance to mineralocorticoid
support by 24 hours of life with stable hemodynamics.
hormone, aldosterone. Two clinical types have been identified
Feeding was initiated on day 1 of life and was gradually
Primary (type 1 and 2) and secondary. Primary PHA Type 1
increased over the next subsequent days. On day 12 of life,
(PHA1) or Renal PHA is autosomal dominant and is due to
the baby had poor feeding, lethargy, vomiting and developed
NR3C2 gene mutation coding for MR receptor in renal tubules.
features of shock, hypotension, hypovolemia, and
PHA type 2 or systemic PHA is autosomal recessive and is more
dehydration. He was managed with fluid resuscitation and
severe. The defect happens to be in ENaC due to genetic
inotropes. Urine output was 5ml/kg/hr and initial laboratory
mutation in SCNN1A, SCNN1B and SCNN1G genes (3). Secon-
investigations revealed hyponatremia (114meq/dL),
dary PHA is generally associated with Urinary tract infection and/
hyperkalaemia (9meq/dL) and metabolic acidosis (Ph: 7.11,
or malformation. It can also be due to tubulointerstitial nephritis,
HCO3 : 7 meq/dL). The external genitalia were normal. A
renal vein thrombosis and drugs such as amiloride (ENaC
diagnosis of Congenital Adrenal Hyperplasia (CAH) with salt
blocker), spironolactone (MR blocker)(4).
losing type was entertained. The baby was started on
Our case presented with hyponatremia, hyperkalaemia and
hydrocortisone and fludrocortisone after sending blood
metabolic acidosis. Type 2 PHA (Gordon syndrome) presents
samples for serum cortisol and 17-hydroxyprogesterone
with volume retention and hypertension. Since our baby
(17-OHP). Baby was managed with fluid resuscitation, sodium
presented with volume depletion and hypotension, Type 1 PHA
supplementation and K+ lowering agents including insulin
was considered. Genetic analysis could not be done due to
glucose infusion, salbutamol nebulisation, calcium gluconate
parental apprehension and financial constraints. The

An Initiative of The Tamil Nadu Dr. M.G.R. Medical University

University Journal of Medicine and Medical Specialities
management of PHA consists of liberal fluid resuscitation, sodium
supplementation over 15-20meq/kg/day and K+ lowering therapy
that includes insulin, bicarbonate, resins and salbutamol. Most of
the patients respond to aggressive fluid and sodium therapy and
might need lifelong sodium and bicarbonate supplementation. Early
diagnosis is the key for survival(5).
Both CAH and PHA will present in the neonatal period with similar
symptoms (lethargy, vomiting, poor feeding, hyponatremia,
hyperkalaemia and acidosis). Unresponsiveness to steroid
supplementation along with normal 17 OHP and elevated
aldosterone levels should clinch the diagnosis of PHA(4).

References
1. Schweiger B, Moriarty MW, Cadnapaphornchai MA. Case
report: severe neonatal hyperkalemia due to pseudo
hypoaldosteronism type 1. Curr Opin Pediatr. 2009 Apr;21(2):2
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2. Silva N, Costa M, Silva A, Sá C, Martins S, Antunes A, et al.
A case of systemic pseudohypoaldosteronism with a novel mutation
in the SCNN1A gene. Endocrinol Nutr Organo Soc Espanola
Endocrinol Nutr. 2013 Jan;60(1):33–6.
3. Sharma R, Pandey M, Kanwal SK, Zennaro MC.
Pseudohypoaldosteronism type 1: management issues. Indian
Pediatr. 2013 Mar;50(3):331–3.
4. Delhikumar CG, Narayanan P, Mahadevan S.
Pseudohypoaldosteronism masquerading as congenital adrenal
hyperplasia. Indian J Pediatr. 2012 Jan;79(1):115–6.
5. Bangash AS, Ali NF, Sami S, Iqbal M.
Pseudohypoaldosteronism type-I: a rare cause of hyperkalemia in
neonates. JPMA J Pak Med Assoc. 2014 Apr;64(4):484–6.

An Initiative of The Tamil Nadu Dr. M.G.R. Medical University

University Journal of Medicine and Medical Specialities
An Initiative of The Tamil Nadu Dr. M.G.R. Medical University
University Journal of Medicine and Medical Specialities
An Initiative of The Tamil Nadu Dr. M.G.R. Medical University
University Journal of Medicine and Medical Specialities
An Initiative of The Tamil Nadu Dr. M.G.R. Medical University
University Journal of Medicine and Medical Specialities