[Child with swelling of eyelids and face; not always due to allergy]. / Een kind met zwelling van de oogleden en het gelaat: niet altijd allergie.

Three boys aged 3.5, 4.5 and 2.5 years, developed puffy eyelids and a swollen face. Initially, their symptoms were attributed to allergy. However, careful history taking, physical examination and laboratory studies (urinalysis and serum albumin) showed that the presenting symptoms were the first signs of nephrotic syndrome. Specific therapy induced rapid remission of the nephrotic syndrome in all patients. In children with puffy eyelids and a swollen face, nephrotic syndrome should be considered in the differential diagnosis. Appropriate laboratory studies (urinalysis) are indicated to reach the correct diagnosis so that appropriate therapy can be initiated.

[5 children with hypokalemia, hypomagnesemia and hypocalciuria (Gitelman syndrome) in one family]. / Vijf kinderen met hypokaliëmie, hypomagnesiëmie en hypocalciurie (Gitelman-syndroom) in één gezin.

Gitelman's syndrome was diagnosed in five siblings. The parents were relatives in the third remove. Gitelman's syndrome is a rare autosomal recessive hereditary magnesium reabsorption defect in the distal tubule. It is characterized by episodes of muscle weakness, usually accompanied by abdominal pain and vomiting. Tetany may occur during a febrile illness. Patients are of normal height and weight and have normal blood pressures. Sometimes eczematous skin lesions are found. Biochemically there is hypokalaemia, hypomagnesaemia and alkalosis. Urinary excretion rates of potassium and magnesium are elevated, the excretion of calcium is diminished. Treatment consists of oral suppletion of magnesium, sometimes also with oral potassium. A potassium-sparing diuretic may be used. The prognosis appears to be good.

[A patient with type ZZ alpha 1-antitrypsin deficiency and hypercalcemia caused by sarcoidosis]. / Een patiënt met alpha 1-antitrypsine deficiëntie type ZZ en hypercalciëmie ten gevolge van sarcoïdose.

The history of illness of an eight-year-old boy is presented. Fifteen days old he had been hospitalized because of vomiting, diarrhoea and prolonged jaundice. Alpha 1-antitrypsin deficiency (genotype PiZZ) was diagnosed. At the age of nearly eight complaints started, such as headache, apathy, nausea and vomiting. Sarcoidosis was diagnosed on account of hypercalcemia (3.48-3.68 mmol/l), an elevated serum angiotensin converting enzyme (60 U/l), a positive Kveim test and the fact that other diseases could be excluded. The prognosis of a combination of a serious alpha 1-antitrypsin deficiency and sarcoidosis is discussed. This combination, as far as we have been able to trace, has not been described before.

Clinical, pathological and genetic aspects of a form of cystic disease of the renal medulla: familial juvenile nephronophthisis (FJN).

A combined clinical, pathological and genetic study of 13 cases of FJN is reported. The clinical features are conistent with those described in the literature, except that short stature is not a feature in this group. Hyperplasia of the juxtaglomerular apparatus has been seen in 5 of 9 cases where histology was done. The genetic studies support the view that FJN is an autosomal recessive hereditary disease. Because their patterns of inheritance differ, FJN and medullary cystic disease (MCD) are separate entities. We suggest simplification of the nomenclature to: medullary cystic disease of childhood type, formerly FJN and medullary cystic disease of adult type, formerly MCD.