SUMMARY Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy. The risk for HOOD patients to have a child with HOOD who will develop renal failure cannot easily be deduced from published pedigrees. We have studied a large family with 30 patients with HOOD and have analysed 34 kindreds with HOOD nephropathy from published reports, comprising 213 patients. For a patient with HOOD from a family in which HOOD nephropathy occurs, the risk of having a child with HOOD nephropathy is about 1:4; the risk of having a child in whom renal failure will develop is about 1:10.
Presentation of caseIn September 1996, a 66-year-old woman visited our clinic because of edema of the legs of 4 month's duration. Her family doctor reported a high erythrocyte sedimentation rate of 136 mm in the first hour, marked proteinuria, and the presence of a monoclonal band on serum electrophoresis. In March of the same year she had undergone a total abdominal hysterectomy for a myoma with bilateral salpingo-oophorectomy. Her medical history was otherwise unremarkable.In addition to her edema, which was treated successfully with diuretics, she complained of breathlessness on exertion and lethargy. She did not have any other complaints, in particular, no cardiorespiratory symptoms, periorbital edema, night sweats, or weight loss. Medication consisted of amiloride/hydrochlorthiazide (2.5 mg/25 mg daily) and, until 4 months prior to admission, ibuprofen (400 mg pro re nata) for ill-defined pain in both legs. She did not smoke and only sporadically drank alcohol.On physical examination she appeared well, with a blood pressure of 110/75 mm Hg, a regular pulse rate of 80 beats per minute, weight 69 kg, height 165 cm. There were no abnormal findings; there was neither superficial lymphadenopathy nor hepatosplenomegaly, the kidneys were not palpable, and there was only a mild edema of the feet. Laboratory studies: erythrocyte sedimentation rate (ESR) was 77 mm in the first hour, hemoglobin 9.4 mmol/l with normal cellular indices, white blood cell count (WBC) 8.7!
The relatives of two patients with medullary cystic disease associated with retinitis pigmentosa were studied. A new case was found in one of these families, and consanguinity of the parents was established in another. Conventional fundoscopic examination of relatives without renal disease did not show retinal abnormalities, but electro‐ophthalmologic investigation demonstrated retinal dysfunction in three relatives, including two of the four parents who may be considered obligatory heterozygotes under the assumption of autosomal recessive inheritance of this syndrome. Less severe electro‐ophthalmological abnormalities were observed in the other two parents. It is considered highly probable that all three patients are homozygous for a mutant gene causing both the renal and the retinal abnormalities. The results of this study support the view that medullary cystic disease associated with retinitis pigmentosa is transmitted as an autosomal recessive trait, in contrast to the dominant form, which is reported not to be associated with eye abnormalities. With respect to genetic counseling and donation of kidneys by relatives, it is important to establish the mode of inheritance of cystic medullary disease in a given family. Electro‐ophthalmologic examination should therefore be included in the examination of families in which medullary cystic disease occurs.
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