Acid-Base Disorders 5

I have included in your syllabus a list of syndromes that have renal disease in them and I’m going to highlight some of them here, not all of them, but highlight a few of them and show you some pictures. One or two of them you may see in the photo-quiz outside. I wonder how they got there? So we’ll just go through a few syndromes that will both help you clinically and might help you on the Boards.

Syndrome number one, which I don’t have a picture of, is branchio-otorenal syndrome, BOR syndrome. You get dysplasia; unilateral renal agenesis is the renal anomalies, and other findings are branchial fistulas and in particular, preauricular pits and hearing losses. Those are underlined because those are the associations that you want to make. If you see somebody with a little pit in front of their ear and hearing loss, look for renal problems. Potter’s syndrome: renal failure, oligohydramnios. Remember that oligohydramnios tends to be associated with pulmonary hypoplasia. Because there’s not enough amniotic fluid to expand the lungs. You also get small posterior-set ears, micrognathia, beaked nose, wide set eyes. Here is a picture of Potter’s facies. These babies are usually stillborn. Micrognathia, look at the ears. Look how low set they are. This is what the kidneys look like; cystic dysplasia. Another picture of Potter’s facies. Ears are low set, not so low set, beaked nose, micrognathia. Pulmonary hypoplasia is the association.

Prune-belly syndrome; the renal abnormalities, dilated urinary tract, dysplastic, aplastic, multicystic and hydronephrotic kidneys. Underline absence of abdominal musculature, cryptorchidism. That’s called the triad because there are three of them. Cryptorchidism, absence of abdominal musculature, renal abnormalities. The triad.

Alport’s syndrome has glomerular lesions, hematuria and decreased GFR. Underline anterior lenticonus, cataracts, sensorineural deafness. First, lets look at prune-belly syndrome. Here is the prune-belly. Lacks abdominal musculature. Testes are not palpable. Renal abnormalities. Prune-belly syndrome. By the way, what do you notice? Is this a boy or a girl? Boy. Prune-belly syndromes are almost always in boys. And we can talk at some point about why that is, but it’s almost always in boys. Write it down. There are only about five reported cases in girls. And if they ask you that, tell them you want your money back. Prune-belly syndrome, boy, cryptorchidism, absence of abdominal musculature, renal problems. Hearing. Sensorineural high tone hearing loss. Cataract. This is the only condition, the only condition, that gives you anterior lenticonus. Everything else is posterior lenticonus in ophthalmology. This plus the characteristic glomerular lesion is Alport’s syndrome. I’ll go back and remind you, Alport’s syndrome; anterior lenticonus, cataracts, glomerular lesions, hematuria, decreased GFR.

Okay, we have a few more to go. This is a sort of characteristic … you see this little bulls-eye when you do your funduscopic? This is pretty characteristic. This is the lenticonus because what’s happening is you are looking in and the conical-shaped lens is like this, so you are going in and making your cuts in and I’ve never seen it described anywhere, but I’ve seen it a zillion times. And this is what it looks like. It almost looks circumferential. Bulls-eye in nature.
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Tuberous sclerosis; you’ve heard about tuberous sclerosis. The renal abnormalities, renal angiomyolipoma, cystic kidneys and renal cell carcinoma. An important clinical link and association. Other features, underline adenoma sebaceae, underline CNS tubers, retinal phacoma and of course some of the skin, the shagreen patches, the White Mountain ash spots. We’ll talk about Drash syndrome, which is diffuse mesangial sclerosis, nephrotic syndrome in end-stage renal disease. The association here is Wilms tumor and male pseudohermaphroditism. So let’s first … looks like I have Drash syndrome up here first. Here’s mesangial sclerosis, diffuse mesangial sclerosis and ambiguous genitalia. If you get a patient, a case, with nephrotic syndrome and ambiguous genitalia like this, what study do you want to do? A renal ultrasound because you want to look for Wilms tumor. And that’s the link and association, a very important link and association here. This is named after Alan Drash, the first person. It’s also called Denny’s Drash syndrome, nephrotic syndrome in childhood, diffuse mesangial sclerosis, Wilms tumor, male pseudohermaphroditism. So these are males that have ambiguous genitalia. The females do not.

Finally, what is this? Recognizable? Anaphylactoid purpura, right. Remember, it is usually classically over the lower limbs and buttocks. It is alliterative, palpable purpura. Write down, as a link and association, palpable purpura. Because you can feel it. Little lumps. Palpable purpura on the lower extremities, crampy abdominal pain, arthralgia, peak at 4-5 years of age. It’s mediated by IgA immune complexes. Histology in the kidney, mesangial proliferation and/or epithelial crescents. The worse the biopsy the worse the prognosis. If you have nephrotic syndrome and nephritis, that is the worst outcome. We biopsy them and if we see crescents, that’s the issue.

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