The hypertensive young lady with renal cysts—it is not always polycystic kidney disease
| Autor: | Kevin McLaughlin, J. Michael Boulton-Jones, Jonathan G. Fox, J. Brian Neilly |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Polycystic Kidney Diseases Transplantation medicine.medical_specialty X Chromosome Genetic Linkage business.industry Renal function Orofaciodigital Syndromes medicine.disease Hypoplasia Pedigree Surgery Nephrology Hypertension medicine Polycystic kidney disease Humans Female Cyst Syndactyly Pancreatic cysts Family history business Kidney disease |
| Zdroj: | Nephrology Dialysis Transplantation. 15:1245-1247 |
| ISSN: | 1460-2385 0931-0509 |
| DOI: | 10.1093/ndt/15.8.1245 |
| Popis: | normal renal function and renal ultrasound. Her two Case report brothers both declined screening, although they are known to have normal blood pressure. Her mother A 30-year-old female was referred with hypertension had a creatinine clearance of 65 ml/min and enlarged and renal failure. She had no personal or family history kidneys on ultrasound at 14 cm with numerous cysts of renal disease although both her mother and sister in both kidneys. Her mother had no abnormal physical were hypertensive (II5 and III3 respectively in family features associated with OFD and her only past medtree, Figure 1). Blood pressure was 196/116 mmHg ical history of note was a spontaneous abortion at 3 with grade II retinopathy. Both kidneys were palpable months of her fourth pregnancy. The cause of foetal and urine analysis revealed protein+only. Serum creatloss was not known. Her maternal grandmother 2 in inine was 160 mmol/l with 24 h urine albumin excretion Figure 1) had 12 pregnancies of which four were girls, of 106 mg. Ultrasound showed both kidneys to be four boys and four ended with spontaneous abortion. enlarged at 20 cm with multiple cysts (average diameter There was no family history of consanguinity. Her 2 cm). No hepatic or pancreatic cysts were seen. During father died aged 58 due to a cerebrovascular accident childhood she had treatment for congenital defects and had a past history of hypertension. The family including correction of a bifid right great toe and had no contact with paternal relations. excision of a fibrocyst below her tongue. At the age of 12 she was diagnosed as having oro-facial-digital (OFD) syndrome with documented features at this time being: lobulate tongue with partial cleft palate (Figures 2 and 3); antimongaloid slanting epicanthus; strabismus; hypoplasia of the left nostril; syndactyly affecting all fingers; short proximally placed thumbs; incurved index, ring and fifth fingers with broad middle finger (Figure 4); abnormal feet with broad great toes and II–III syndactyly. She was also diagnosed as having epilepsy and a brain CT scan had revealed an absent posterior corpus callosum. Chromosome analysis confirmed a normal female karyotype. The clinical features at that time were felt to represent the autosomal recessive variety (Mohr Syndrome, OFD Type II ) of OFD which was supported by the lack of family history. Attempts were made to screen all of the patient’s family members for polycystic kidneys. Her sister had |
| Databáze: | OpenAIRE |
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