A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism
نویسندگان
چکیده
منابع مشابه
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation
Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhi...
متن کاملPSEUDOHYPOALDOSTERONISM: A CASE REPORT
A four day old female infant was admitted because of poor feeding, vomiting and jaundice. Laboratory examination showed hyperkalemia, mild hyponatremia and renal tubular acidosis type 4. Serum aldosterone and plasma renin activity were elevated but serum cortisol, 17 -hydroxyprogesterone, ACTH, 24 hour urinary 17- ketoste roid, pregnanetriol, renal function and sonogram were normal and henc...
متن کاملCblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report
Background CombinedMethylmalonic Aciduria (MMA), and homocystinuria CblC type is the most common inborn error of cobalamin metabolism with 77 mutations identified till date in the MMACHC gene. The disease has early and late presentations with varied clinical features. Case report A pair of preterm monochorionic twins was born to non-consanguineous parents with history of 2 previous infant deat...
متن کاملPachyonychia congenita type II: report of a case
Pachyonychia congenital (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. General clinical presentation includes thickening of finger and toenails, painful plantar keratoderma, hyperhidrosis, oral leukokeratosis, follicular keratosis, palmar keratoderma, cutaneous cysts, hoarseness, twisted hair and prenatal or natal teeth. Clinically, PC is d...
متن کاملA case report of variant scimitar syndrome
Background: Scimitar syndrome (SS) or congenital pulmonary venolobar syndrome is a rare anomaly, most commonly including partial pulmonary venous drainage into the inferior vena cava, right lung hypoplasia, dextroposition of the heart, and anomalous systemic arterial supply from aorta or one of its branches to the right lung. Case report: A 10-day-old female infant was referred to our hospital...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Endocrine Disorders
سال: 2021
ISSN: 1472-6823
DOI: 10.1186/s12902-021-00767-w