Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235394 (wasting)
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We report oligohydramnios and renal dysgenesis in one of identical twins, which might have resulted from in utero exposure to early, prolonged high-dose indomethacin. The proposita was the second of twin girls born at 36 weeks of gestation. Pregnancy was complicated initially by polyhydramnios in both amniotic sacs and premature uterine contractions. After administration of indomethacin and terbutaline from 16 to 30 weeks' gestation, serial prenatal ultrasound examinations ultimately showed oligohydramnios in twin B and resolution of polyhydramnios in twin A. On day 5 twin B developed hematuria, hypertension, renal failure, hyponatremia, hyperkalemia, metabolic acidosis, sodium wasting and severe, transient inability to excrete potassium. Renal sonography showed enlarged, hyperechoic kidneys with almost no corticomedullary differentiation. Renal biopsy revealed immature glomeruli, dilated Bowman's spaces, dilated tubules, and interstitial fibrosis. The liver was histologically normal. Indomethacin may induce oligohydramnios and transient renal insufficiency in humans and renal dysgenesis in fetal monkeys; it might have induced the abnormalities in this patient.
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PMID:Renal dysgenesis in a monozygotic twin: association with in utero exposure to indomethacin. 148 12

In 1998, Hisama et al. described three brothers born following pregnancies complicated by oligohydramnios in the second or third trimester. Post-natal renal functions were compromised, and post-mortem studies showed kidney tissue abnormalities. Resuscitation and support were required, and they survived 25 hr to 12 days. All boys had a similar craniofacial appearance with infraorbital creases, low set dysplastic ears, as well as athelia, and broad digits with small nails. Variably present features were choanal atresia, preauricular tags and pits, branchial clefts, ventricular septal defect, type IIB interrupted aortic arch, pulmonary lobation anomaly, absent gallbladder, absent thymus, absent parathyroid gland, accessory spleen, and imperforate anus. Their mother, maternal grandmother, and maternal first cousin had neck cysts removed as children. We describe a female infant born following a pregnancy where oligohydramnios developed between 27 and 33 weeks gestation. Renal function was initially impaired, but improved over the first weeks of life. There was however a persistent renal wasting of magnesium. Her craniofacial appearance with infraorbital creases and low set dysplastic ears was similar to the brothers' described by Hisama et al. [1998; Am J Med Genet 80:335-342]. She had choanal atresia, athelia, a preauricular pit, gingival cysts, broad digits with small nails, right aortic arch with a vascular ring, hypothyroidism, impaired glucose homeostasis, hypoadrenalism, neurological impairment, and brain calcifications on CT. She died after 13 weeks of intensive care. Her mother as a child and maternal grandfather as an adult had neck cysts removed. The similarities between the cases suggest a common syndrome.
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PMID:Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts. 1748 25

Genetic disorders of the kidney include cystic diseases, metabolic diseases and immune glomerulonephritis. Cystic diseases include autosomal dominant and recessive polycystic kidney disease (ADPKD, ARPKD, respectively). Neonates with enlarged, cystic kidneys should be evaluated for PKD. Patients with ADPKD have cysts and renal enlargement. Most patients present with hypertension, hematuria or flank pain; the most common extrarenal manifestation is polycystic liver disease. Oligohydramnios, bilaterally enlarged kidneys and decreased urine are featured in utero in ARPKD. Medullary sponge kidney is uncommon and features nephrocalcinosis, recurrent calcium stones and a history of polyuria/nocturia and/or urinary tract infections. Alport syndrome (AS) is an inherited disease of the glomerular basement membrane that is usually inherited as an X-linked dominant trait. Most patients with AS present in the first two decades of life with persistent microscopic or gross hematuria. Later, proteinuria is seen and its presence portends disease progression. Other findings may include sensorineural hearing loss and ocular abnormalities. There are various inherited tubulopathies, including Bartter syndrome, a group of renal tubular disorders that consist of two phenotypes with four genotypes. Patients usually present early in life with salt wasting, hypokalemia and metabolic alkalosis. Other features, depending on genotype, may include polyhydramnios and premature birth. Gitelman syndrome is also a salt-losing tubulopathy characterized by hypokalemic alkalosis. The majority of patients with Gitelman syndrome present during adolescence or early adulthood.
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PMID:Inherited renal diseases. 2508 62